Mark Pratt
`John West
`Lab projects
`Monday, August 6, 2012 11:40:50 AM
`LabUpdate_120802.pptx
`
`From:
`To:
`Subject:
`Date:
`Attachments:
`
`Hi John -
`
`I'm attaching Shujun's slides on lab R&D around accuracy. Sorry about the size but it includes
`a lot of read stacks. This doesn't include production and/or diversity panels but is more
`focused on specific problems. On the last page is a grid where we evaluate the basic
`approaches. The only one that we are planning to drop from the agenda is the low
`concentration phasing since there are others doing this (GNOM and Moleculo).
`
`The price for the used CHEF system was $1000.
`
`^^
`
`Personalis EX2075
`
`

`

`Personalis Wet Lab Update
`
`Shujun Luo
`08/02/2012
`
`Personalis EX2075
`
`

`

`Goals
`
`•
`
`•
`
`Expanding Repeat Diseases (small, challenging, high value set)
`– Characterize achievable performance with contemporary technologies (v3
`chemistry & lobSTR)
`– Develop custom sequencing libraries or methods as necessary
`• Difficult motifs (Homopolymers, STRs)
`– Identify and develop challenge sets
`– Develop methods to improve performance
`SD/Compression
`– Use library methods to reduce mapping and assembly degeneracy
`– Use library methods to improve haplotype performance in degenerate regions
`• Phasing
`– Link heterozygous loci across genes
`– Develop target set (if necessary)
`Improve performance on interpretable content
`– Customized libraries and sample preparation methods
`
`•
`
`Personalis EX2075
`
`

`

`Grand Entry
`
`R&D Lab
`
`PCR Room
`
`Ghost Room
`
`Personalis EX2075
`
`

`

`Sequencing Platform Performance Bench Mark
`
`John’s analysis:
`
`R1 of 2x300:
`
`Median # bases >= Q25: 258
`Median # bases >= Q30: 243
`
`Best read out of 2,500:
`299 bases >= Q25
`295 bases >=Q30
`
`90th percentile:
` 282 bases >= Q25
` 271 bases >= Q30
`
`R2 of 2x300 :
`
`Median # bases >= Q25: 202
`Median # bases >= Q30: 187
`
`Best read out of 2,500:
`251 bases >= Q25
`233 bases >=Q30
`
`90th percentile:
` 225 bases >= Q25
` 210 bases >= Q30
`
`2x150
`
`2x300
`
`Personalis EX2075
`
`

`

`Current Status on 19 ExpandRepeat Diseases
`---data from Amy ERX069505 (2x100)
`
`End
`Start
`Chr
`chr1 208440810 208440838
`
`Disease
`
`chr12 7045879
`
`7045938
`
`Dentatorubral-pallidoluysian atrophy
`(DRPLA))
`
`chr12 112036753 112036823 Spinocerebellar ataxia 2 (SCA2)
`chr13 70713483 70713517
`chr13 70713515 70713561 Spinocerebellar ataxia 8 (SCA8)
`
`STR
`AGC
`
`AGC
`
`AGC
`ACT
`AGC
`
`chr14 92537354 92537396 Machado-Joseph disease (SCA3)
`
`AGC
`
`chr16 87637888 87637935 Huntington disease-like 2 (HDL20)
`chr19 13318672 13318712 Spinocerebellar ataxia 6 (SCA6)
`chr19 13318970 13319016
`chr19 46273462 46273524 Myotonic dytrophy 1 (DM1)
`chr21 45196323 45196360 Myoclonic epilepsy
`
`AGC
`AGC
`AGG
`AGC
`no call
`
`3
`
`3
`3
`3
`
`3
`
`3
`3
`3
`3
`
`19.7
`
`23.3
`11.3
`15.3
`
`14
`
`15.3
`13.3
`15.3
`20.7
`
`0,0
`
`0,0
`6,12
`0,0
`
`27,30
`
`0,6
`-6,-3
`-6,0
`-21,-21
`
`16
`
`9
`2
`1
`
`10
`
`12
`16
`5
`9
`
`16
`
`8
`2
`1
`
`10
`
`12
`16
`5
`9
`
`0
`
`1
`0
`0
`
`0
`
`0
`0
`0
`0
`
`0:16
`
`1
`
`CAG/CAA
`
`-3:1/0:8
`6:1/12:1
`0:1
`
`1.36E-10 CTG
`1
`1
`
`CTG
`
`27:6/30:4
`
`0:8/6:4
`-6:12/-3:4
`-6:3/0:2
`-21:9
`
`1
`
`1
`1
`1
`1
`
`CTG
`
`TGC
`TGC
`
`Period
`3
`
`Reference
`copy
`9.3
`
`Allelotyp
`e
`39,39
`
`Nan’s Lobstr v1
`Supporting
`Coverage
`reads
`1
`1
`
`Conflicting
`reads
`0
`
`All alleles
`39:1
`
`Score
`1
`
`STR
`
`shujun's eye
`Period Reference
`Allelotype note
`copy
`
`3
`
`3
`
`3
`
`3
`
`3
`3
`
`good coverage,
`could be only one
`allele
`lobstr misses one
`allele
`
`lobstr misses one
`allele
`no cross over, lobstr
`should be correct,
`hugeseq didn't call
`long insertion well
`agree with lobstr
`agree with lobstr
`
`lobstr misses one
`allele
`
`19
`
`23
`
`15
`
`8
`
`14
`13
`
`20
`3
`
`14
`
`19,?
`
`22,23
`
`15,16
`
`>14
`
`14,16
`11,12
`
`13,5
`2,3
`
`13,?
`
`3
`CAG
`CGCGGGGCGGGG 12
`
`chr22 46191234 46191304 Spinocerebellar ataxia 10 (SCA10)
`
`no call
`
`chr3 63898360 63898392 Spinocerebellar ataxia 7 (SCA7)
`chr3 128891419 128891502 Myotonic dytrophy 2 (DM2)
`chr3 128891538 128891576
`chr4 3076603
`3076667
`chr4 3076665
`3076695
`chr5 146258290 146258322 Spinocerebellar ataxia 12 (SCA12)
`
`Huntington disease
`
`AGC
`AGGC
`AC
`AGC
`CCG
`AGC
`
`chr6 16327864 16327955 Spinocerebellar ataxia 1 (SCA1)
`
`no call
`
`chr6 170870994 170871105 Spinocerebellar ataxia 17 (SCA17)
`
`no call
`
`chr9 71702832 71702873 Friedrich ataxia (FRDA)
`
`chrX 146993040 146993079
`chrX 146993554 146993629 Fragile-X site A (FRAXA)
`
`chrX 147582124 147582273 Fragile X site E (FRAXE)
`
`chrX 66765158 66765261 Kennedy disease
`
`AAG
`
`AAACC
`no call
`
`no call
`
`no call
`
`3
`4
`2
`3
`3
`3
`
`3
`
`5
`
`10.7
`20.8
`19
`21.3
`10
`10.7
`
`0,6
`-24,-24
`6,18
`-9,-3
`0,9
`0,12
`
`13.7
`
`7.8
`
`0,0
`
`0,0
`
`10
`1
`9
`10
`11
`25
`
`26
`
`9
`
`10
`1
`8
`10
`11
`25
`
`26
`
`9
`
`0
`0
`1
`0
`0
`0
`
`0
`
`0
`
`1
`0:5/6:5
`1
`-24:1
`6:6/14:1/18:2 1
`-9:5/-3:5
`1
`1
`0:4/9:7
`0:15/12:10
`1
`
`0:26
`
`0:9
`
`1
`
`1
`
`ATTCT
`
`CAG
`CAGG
`
`CAG
`
`GCT
`
`CTG
`
`CAG
`
`CTT/CTC
`
`CGG
`
`GCC
`
`CAG
`
`5
`
`3
`4
`
`3
`
`3
`
`3
`
`3
`
`3
`
`3
`
`3
`
`3
`
`10
`20
`
`21
`
`10
`
`29
`
`38
`
`14
`
`20
`
`15
`
`22
`
`good coverage,
`could be only one
`allele
`agree with lobstr
`disagree with lobstr
`
`agree with lobstr
`
`agree with lobstr
`no cross over, good
`coverage, could
`benefit from longer
`read
`no cross over, good
`coverage, could
`benefit from longer
`read
`good coverage,
`could be only one
`allele
`
`no cross over, poor
`coverage
`ok coverage, may
`have another allele
`lobstr misses both
`alleles
`
`10,12
`15,?
`
`20,18
`
`10,14
`
`?
`
`?
`
`14,?
`
`?
`
`15,?
`
`20,24
`
`Personalis EX2075
`
`

`

`Longer Read Length Increases the Possibility of Detection
`
`Chr
`
`Disease
`
`Coord
`
`Gene
`
`region
`
`Description
`
`chr12
`
`chr12
`
`chr16
`
`12q24
`
`ATXN2
`
`coding
`
`(CAG)n (stable 15-24)
`
`12p13.3
`1
`
`DRPLA
`
`coding
`
`(CAG)n (stable 7-34)
`
`13q21
`
`?
`
`UTR
`
`(CTG)n (stable 16-34)
`
`14q32.1
`
`ATXN3
`
`(CAG)n (stable 13-36)
`
`read
`length
`for stable
`
`72
`
`102
`
`102
`
`108
`
`*aligned
`frag
`allowance
`for 100bp
`25
`
`*aligned
`frag
`allowance
`for 150bp
`75
`
`*aligned frag
`allowance
`for 200bp
`
`P(N>2,RL=
`P(N>2,RL=
`150)
`100) at 30x
`at 30x
`
`P(N>2,RL=
`200)
`at 30x
`
`125
`
`0.9953
`
`1.000
`
`1.000
`
`-5
`
`-5
`
`-11
`
`45
`
`45
`
`39
`
`95
`
`95
`
`89
`
`NaN
`
`NaN
`
`NaN
`
`1.0000
`
`1.000
`
`1.0000
`
`1.000
`
`0.9999
`
`1.000
`
`1.0000
`
`1.000
`
`Spinocerebellar ataxia 2
`(SCA2)
`Dentatorubral-pallidoluysian
`atrophy (DRPLA)
`Spinocerebellar ataxia 8
`chr13
`(SCA8)
`chr14 Machado-Joseph disease
`(SCA3)
`Huntington disease-like 2
`(HDL20
`
`chr19
`
`chr22
`
`chr3
`
`coding
`variably
`spliced
`exon
`3' UTR
`
`(CTG)n (stable 7-28)
`
`(CTG)n (stable (5-37)
`
`coding
`
`(CAG)n (stable 4-17)
`
`promotor
`
`(CCCCCGCCCCGCG)n (stable 2-3)
`
`16Q24.3
`
`JPH3
`
`19q13
`
`19p13
`
`DMPK
`CACNA1
`A
`CSTB
`
`ATXN10
`
`intron 9
`
`(ATTCT)n (stable 10-20)
`
`84
`
`111
`
`51
`
`39
`
`100
`
`13
`
`-14
`
`46
`
`58
`
`-3
`
`-7
`
`63
`
`36
`
`96
`
`108
`
`47
`
`43
`
`113
`
`86
`
`146
`
`158
`
`97
`
`93
`
`0.9008
`
`NaN
`
`0.9988
`
`1.000
`
`1.000
`
`1.0000
`
`1.000
`
`1.0000
`
`1.0000
`
`1.000
`
`NaN
`
`NaN
`
`1.0000
`
`1.000
`
`1.0000
`
`1.000
`
`21q22.3
`22q13.3
`1
`3q21.3
`
`ZNF9
`
`intron 1
`
`(CCTG)n (stable 10-26)
`
`3p14.1
`
`ATXN7
`
`coding
`
`(CAG)n (stable 4-35)
`
`4p16.3
`
`HD (HTT)
`
`coding
`
`(CAG)n (stable 6-34)
`
`5q32
`
`6p23
`
`PPP2R2B promotor
`
`(CAG)n (stable7-45)
`
`ATXN1
`
`coding
`
`(CAG)n (stable 6-38)
`
`coding
`
`104
`
`105
`
`102
`
`135
`
`114
`
`-8
`
`-5
`
`-38
`
`-17
`
`42
`
`45
`
`12
`
`33
`
`21
`
`92
`
`95
`
`62
`
`83
`
`71
`
`NaN
`
`NaN
`
`NaN
`
`NaN
`
`NaN
`
`1.0000
`
`1.000
`
`0.9999
`
`1.000
`
`0.8743
`
`1.000
`
`0.9995
`
`1.000
`
`0.9866
`
`1.000
`
`chr3
`
`chr4
`
`chr5
`
`chr6
`
`chr6
`
`chr19 Myotonic dytrophy 1 (DM1)
`Spinocerebellar ataxia 6
`(SCA6)
`chr21 Myoclonic epilepsy
`Spinocerebellar ataxia 10
`(SCA10)
`Myotonic dytrophy 2 (DM2)
`Spinocerebellar ataxia 7
`(SCA7)
`Huntington disease
`Spinocerebellar ataxia 12
`(SCA12)
`Spinocerebellar ataxia 1
`(SCA1)
`Spinocerebellar ataxia 17
`(SCA17)
`Friedrich ataxia (FRDA)
`
`chr9
`
`6q27
`
`9q13
`
`TBP
`
`FXN
`
`(CAG)n (stable 24-42)
`
`intron 1
`
`(GAA)n (stable 6-32)
`
`chrX
`
`chrX
`
`chrX
`
`Fragile-X site A (FRAXA)
`
`Xq27.3
`
`FMR1
`
`5' UTR
`
`(CGG)n (stable 6-54)
`
`Fragile X site E (FRAXE)
`
`Kennedy disease
`
`Xq28
`
`Xq12
`
`FMR2
`
`5' UTR
`
`(CCG)n (stable 4-39)
`
`AR
`
`coding
`
`(CAG)n (stable 9-35)
`
`126
`
`96
`
`162
`
`117
`
`105
`
`-29
`
`1
`
`-65
`
`-20
`
`-8
`
`51
`
`-15
`
`30
`
`42
`
`101
`
`45
`
`80
`
`92
`
`0.0369
`
`1.0000
`
`1.000
`
`NaN
`
`NaN
`
`NaN
`
`NaN
`
`1.000
`
`0.9988
`
`1.000
`
`1.0000
`
`1.000
`
`*: Minimal 3bp flanking
`Still need to include sampling for het?
`
`Personalis EX2075
`
`

`

`Chr12:DRPLA
`
`Personalis EX2075
`
`

`

`Chr12:SCA2
`
`Personalis EX2075
`
`

`

`Chr13:SCA8
`
`Personalis EX2075
`
`

`

`Chr14:SCR3
`
`Personalis EX2075
`
`

`

`Chr16:HDL20
`
`Personalis EX2075
`
`

`

`Chr19:SCA6
`
`Personalis EX2075
`
`

`

`46,273,460 bp
`46,273,530 bp
`46,273,520 bp
`46,273,510 bp
`46,273,500 bp
`46,273,490 bp
`46,273,450 bp
`46,273,470 bp
`
`
`ID - B2]
`
`
`
`
`
`
`oogm
`
`wywuaawouaat=t\=toattit==i)Mu=ouOo==wywuawuwouaat=t\=toattit==ooi)ooi)oowooi)i)
`
`Oo
`
`aoaoeooaoaot=o\=t=sttititit
`
`i)Mu==Oo==wywuaawouaat=o\=t==ateai)Mu==Oo==
`
`wyawuawuwouaat==f|=t=tettite
`
`oowowoooowoooooowow
`
`wyaawuaawuwouaacaft==o\=totfeiees
`
`oowowowooowowoooooowow
`
`i)i)jw=Mu==ouOo==
`
`i)i)jw=Mu==ouOo==oowouowooowowoooooowow
`
`i)i)jw=Mu==ouOo==
`
`i)i)jw=Mu==ouOo==
`
`EFFrRFFalFoRFBeFREFE===a4=o\=t=r===eeae==yua[eeeawouaaawuwouaa
`
`BREEFEFREBIERFeFeBeBREFE
`
`oowooomia]oooia]ia]ia]ooOooia]ia]
`
`FREFRRFFIERBoeRFRePREFF
`
`et4os=i)=eeo==
`
`wowo=if
`
`
`
`
`
`
`
`wfatfetfeaeeee
`
`
`
`Goooooooooooooo
`
`QoOogoVoOUoOUoOUoOUo
`
`sftagfgfagfnfaaor
`
`OOOOOOOOOOOaGoo
`
`ooooooooooo
`
`st[tgftft
`
`Ooooeoooooooo
`
`=flattatatt==Oooo====
`
`Vogueooo
`
`fott/t<<=Oooo===
`
`wove|eeOS
`
`fottit~ot
`
`Ooooeoo
`
`fott/t<<=ouUouvvUuUoo
`
`Ooooia]ia]
`
`=flattatatt=ot=Oooo=ou==aoaoooaoao
`
`
`
`
`
`OOOntoOuguueeoe
`
`
`
`
`
`OoooNoOUoOUoOUoOUo
`
`
`
`
`
`sfttfgfefaafaa
`
`
`
`QUOIoOooooooo
`
`
`
`
`
`OOOONoOUoOUoOUOOO
`
`stfg[fffaao
`
`RREEREREREREREREEE
`
`cobe&=ftieamui]
`coboao
`
`
`Wowooow =fttlleler OoOM Wowooow uuuu Ouoom statitla uuuu OoOM Ouooouooo sftattt|r|e OoOM Ouooouooo FREEREsftattt|r|e FREIERIE Wooo OoouooouU Ouooouooo OoOM UuUCouwooww Ouooouooo FREI sa(at[atctat[atntsatatfatntat||eOuooouoootetfet|atletlet
`
`
`
`muai]
`stiie
`owwawo
`muai]
`stetletitit
`Wuwy
`waieswy=itiie
`wuOuuw
`whooww
`stetieti=tfet
`Ooooia
`iOastetieti=tfet
`Wowia
`stetieti=tfet
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`voor
`aacit
`eeea
`FEEIF
`fwww
`eEoOREF
`atiie
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`Ooooi]
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`ttlefe
`iOa
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`tetietieele
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`iOa
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`stiatleti=rit
`tt|=t=Ooooi]
`Oooo
`fott/t
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`youuu
`fott/t
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`yuo
`tlt|=lat
`yuo
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`REEERERRREREREEE
`
`
`
`OouvveewwvweveveeeeeeeH
`
`
`
`OoUVIVVNVVVVVVUUUVUEUUUU
`
`
`
`
`
`OoooNoOUoOUoOUoUOoUOoU
`
`
`
`QUOIUOoOIoOooOoooooooooo
`
`
`
`
`
`Vogueouooeeeeeeeeeee
`
`BREFRERRERREREREREREREOOOOO
`
`NoONoOUoUOUUUUoL
`
`st[ea[aoeafafa|eet
`
`
`TGETGaATccccecccAGeAGcAGCcAGCAGCAGCA GCA GCAGCAGCAGCAGCAGCAGCAGECAGCAGCAGCAGCAGCATTCCCc Ga CT Al
`
`Chr19:DM1
`Chri9
`:DM1
`
`Personal
`
`IS
`
`EX2075
`
`Personalis EX2075
`
`

`

`Chr21:MYOCLONIC EPILEPSY
`
`Personalis EX2075
`
`

`

`Chr22:SCA10
`
`Personalis EX2075
`
`

`

`350 bp
`
`63,595,360 bp
`
`63,598,370 bp
`
`63,598,350 bp
`
`63,595,390 bp
`
`63,598,400 bp
`
`fftttettttLtttttis
`
`
`
`ofBouseOoooBeououuoe
`
`
`
`ooYbuovuooBoUuUUUOD
`
`2f==astaetttae
`
`
`
`of©oeOoooBeououuoe
`
`ooeBwevoooBouUCUUOY
`
`=f=f=a=ttaa
`
`
`
`Offf«waeOooowomouslawa
`
`=x===fiSeeSSeSaie
`
`
`
`goooeuuLe}OooooUooooouoo
`
`ooveweoCvoooSoUUeELUoL
`
`===ft=fttaa
`
`oofere)33cleeaecaieeecaico
`
`
`
`vueoouaveepveueopULoUU
`
`<a-=<cttttt
`
`
`
`oueooaBecowouceeoo
`
`vueoouaooovuuopuUUU
`
`ota=etefttnet=eie
`
`
`
`oeeojeagoogBecome
`
`veoooeuuuvuouUUU
`
`eott=f=etttte
`
`oSGeeeeesooBomaais
`
`oOvoovouoevevouvoU
`
`OoBouooKoozevouoo
`
`2weloeieeeoaoejow
`
`oeweoovouwo
`
`oeeeooLvouwo
`
`vouevoovou
`
`uvewoooULuuuwu
`
`
`
`ForRFREERFF&FFEE
`
`vouevoovou
`
`vouevoouuuo
`
`aofoeice«oaoa
`
`28jowloowoCoee
`
`
`
`ooYbuovuooBoUuUUUOD
`
`
`
`veoeveveouuuo
`
`—e—eas=ot=
`
`
`
`
`
`oO0BeooCUUoOUDBoUUUUOoD
`
`
`
`
`
`ID - B71
`
`=
`Le}
`os
`=
`o
`oo
`=
`Le}
`oo
`=
`a
`c
`A
`G
`C AG
`c
`A
`oo
`oo
`Le}
`uo
`<£
`re)
`a
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`a
`a
`=
`a
`u
`<£
`oo
`Oo
`=
`oo
`oo
`o
`ua
`=<
`
`oOvwuoucovpogcgouucouce
`
`OovuoovoUUUUUUOUL
`
`Vovooeeouguouoools
`
`Vovooveoeououvooos
`
`vuUuvoVoOUUUUUUOUoUL
`
`VuuvvoVeUeEUEUUUUEUL
`
`VoovoosuouguouUoooeous
`
`VouvoVoeEoUEoCUUoUUoUS
`
`VuvuvVoUVoUoUUUUUoOUUoUoUs
`
`VovvoVoeUUEEoUUOUoooUL
`
`Vovooveusuoupopeouous
`
`—
`
`Vovseeeceeeupoeeeeouseuys
`
`
`
`VuuvVoUooUUUUUOOBUoUULL
`
`Lttttccttttttttite
`
`
`
`Vovoooeeeoeoobooeoeupuoo
`
`
`
`VoUVoOoVoCoobUoOUUOSDSoUULDUOD
`
`etataa
`
`
`
`Colooceeeueouooseououpoe
`
`Chr3:SCA7
`Chr3
`“SCA7
`
`Personal
`
`IS
`
`EX2075
`
`Personalis EX2075
`
`
`

`

`
`vuy-uuuotuuuotuQutuQQPduQQPduQQPduuQtuQQtutQtuQQtutQtuQQedvQ9<v9y<vyytvyytvyytvyy=v=ey=v4ey4QKBut
`
`
`BenceooceboeejbweKo.eeoe©oe
`
`
`otwoooouaaoouowyouuueeeeoUwogleeeeocspeleleeeeeleeceeobocussejusgleeoeceoocspelelseeee|eeeceeocuecsjusoYoCuuvuuyvetlelowueULO]VoLbLULOULLvovele|/eBeao|veecubcucsgo=SpteeeueeeeeeeoebUoboULHiisSafestSeleSeee|CeeeaeteeearagSeoceoac)|pescaetfee||le|elelleeft},tf)=Sats)tees<=
`
`
`
`
`
`
`QOugoooumovooueoouoooooooeooeEeYLBS-sce|>seesoseaice|esloseeaore
`
`
`
`
`
`O339cofeacain)=)ea)coeoleecanaeaBlouse|seoeaoaSSaiiieBeosoooBees BeosS(9Seeoae|oeoesoeaoa
`
`OooOeOooogueorurrgVogeOoooowoovvweeeeewoooeeeEeEEeEeEoeooeoeeoooggooogueorurrgeeeeeestlcistfetetetfeatfeemfatfefaftifefffefarlooggooogueorurrgeeeeeeQogoogoogueorurrgeeeeee|scieeeataafeaafeeeafaefafafefffeifefaa|rOoooowoovvweeeeewoooeeEEUEeoUoeoooeUeoQougwooogoouueeueroYQVUeeeoeueeeeeoeooerleMoorereueueeeeeeeyouveeeoeeees5caafmaafamafaeemfaefafafaeffeefeieefafa|rVoceeeooueooueeeoeooreQOUOeeeeReeeoeeeoeoooBumuce@oceouvEGlobewouowecueocuuocjulyeooueeUeoeeooorre Bugg
`
`
`
`
`
`
`
`
`
`
`
`
`
`
`
`
`
`
`
`
`
`
`
`
`stefetfstaataeaeafafafafafafeeatforatfetatott
`
`OoOomMoouogCOOOVoeVeeEeeeeeeeuvuvuoooooeooSs
`
`ooooconeSoogvueovereeeeeeeereeeooeees.,
`a)CSaaaaataafeatfsaaefefaaeaaeaeaeftfeaeatee
`wuuoggoooseeeeeseeeeseoculs,
`
`OOOomoteCoeeeeeeceeececececeececececeecEeCceceese
`
`
`
`settbeetberleerfeeeteetfeteteteatfeeteeerfeeereafeeteeeeeeleeeleeelet
`
`BeIFRIRERRERRRRRRRREIEIREIREREEEE
`joewieweeeeeiefeeeeeeee©ee
`
`et)-s0=oataefeaelaieeiatate)fat)et|)f=fate==yeouveueoCuVeUeUsUoBoboFoLY
`
`Qsgeesulououlgua)joaeeewee«we
`Qsgeegogegeogwe)jgoeeceocce
`
`
`et)sc)enaeefeefeeaeetae)atat)t===yeouovououleuouousuooo
`
`
`Gageewoegoulgas)joaoooo
`
`
`Qegeewetoulgalys)jaaatiaaeffoo
`
`
`
`en)sc)=ofataeeeeeeeatcetlcieticiei==VeouoYouoUEOUUOUUUOLO8oo
`Qeagegegiegeotigagiagiageagaieieoo
`Vsgegugogogicg@agiagaswefeoo
`VeouvuuouOoUUOUUUUUUOVO8oo
`Hoygegougeesolguigyugugciewoeieoo
`SSSSSSSeSajaet<=of
`Saooooooooowaowuouwoeueow|Teeeeeeaefeetateatett
`
`
`
`
`
`
`
`
`
`
`
`
`S|eeeeee
`OuouoVOVOUrOOoouoooKooUoO
`OoooQoogogeoeogjaogergegec
`
`oOuowotoouogcvogeooooooooou
`OoooQoogoseoe|ogosteruegec
`tceeeeeeetcceaae
`
`
`BAGSgooooWasoagigoagfala
`fofSaatts
`VuoouvouoVEOOOoUOoo
`BQugogogeaeooBulgusagoo
`
`Bugegogeewoogugusagaoo
`tloWoooeeelelemmelerelerelelelelelel
`{=fae—2sttteTogooeeo
`
`veeececemvooccseecececoceo
`
`
`~SaaeaeSeae7a==vevuvouvouULesvuobouuLUFbYU
`ftSSssststti
`
`
`oOeeooUoeeveeoCLLLeoFN
`
`te)aaaeaeaaaeattaSGeeoeseeeeeeeeeseeocus
`ftaaaast
`
`
`eeveeeveeeoUNSuggoeeusuogoseusueuoaocos|eaafafeaeaeaeaeaaBvuovoeu
`Bougecesaqogucucwcocans
`
`VuovoeuuVVUVeEUULEEEoUN
`Suggoeeueuogoseusuaaoos|0Safafefaaatafafatatataeee
`SossSsesraeooeeecce.oac
`
`Bvovooeveueveveeoueyeeo
`BwoeeouTooeoOUooaqosoaooe
`ftaeaait
`SooSooooowu
`ao)Stlaatt
`0)0)ae)setattatiatatlet
`
`ooQosoosooooo
`oscoouowowooo=atSatatatse
`at)ae)aQuoooooooooo
`SoOooouuu
`taaeataafaatatfeat
`Quogue
`
`oevecevoucuecsepevcecececececcou
`
`oesesoscuoucucuseeececececeoecous
`Slselslelslelslelelelelslemmelsielelelelelelelelelslelelel
`a]CSRsatattatattt=est
`ooooBuuuweoeoo
`titi fatietietietiatietiet jat\at
`
`
`oudSeoooooe
`ttteeeetttte
`oeesceuoucus
`otttaneftaeetete
`vevuvueuoUoUL=OtOltOOools
`otttaneftaeetete
`oeeloceuoucus
`ctRo
`
`Bo0BoloSooce
`pttetl
`veuvoouuues
`pttetl
`gaoeoloooce
`pttetl
`oeoeouvoLeEL0feaeaefefataeatatee
`Beaoagoooooce0feaeaefefataeatatee
`
`VeuveovoLEEL0feaeaefefataeatatee
`Beaooooooce
`eett
`
`VeuveovLLEL
`ttttaBeaooooooce
`teeeaeaeaBevuuvooUL
`ttt
`eececececs
`Seacecuecousc
`tteele
`Vttatroou
`veovovoUL
`eeeaefeeete
`uoooa<=of
`oS<uoua=oo6<<=o£
`
`
`
`
`
`
`veveuvoouLy Secepeecey,featefaefeaeaeat) aeataefaeftaeaae featefaefeaeaeat)vueveuvoouY Seceepoculs,Seceepoculs, vueveuvoouY Seceepoculs,vueveuvoouYSeceepoculs,0featefaeftaatae|<r)
`
`
`
`
`
`
`
`49aevayavtytvty=v=y=v
`vyy
`y
`
`ACAGACAGGCAGG
`
`oo
`
`Chr3:DM2
`Chr3
`DM2
`
`Personal
`
`IS
`
`EX2075
`
`128,591,420 bp
`128,891,440 bp
`128,891,460 bp
`128,891,450 bp
`128,591,500 bp
`128,891,520 bp
`
`
`ID - BI
`
`=
`CAGGCAGACAGGCAGC
`
`ao
`
`GGCAGACAGACAGACAGACTCAG
`
`AAA
`
`cC
`
`AGGCAGGCAGACAGATCA
`
`AGACAGGCATG
`
`Gecacacalc
`
`ooa=
`
`=—oo
`
`oo
`
`CAGGCAGACAGG CAlgicCAGGCAGGCAGGCAGGCAGGCAGACAGACAGACAGACAGACAGACAGACAGACAG
`
`Personalis EX2075
`
`

`

`3,076,600 bp
`3,076,610 bp
`3,076,620 bp
`3,076,530 bp
`3,076,640 bp
`3,076,650 bp
`3,076,660 bp
`3,076,670 bp
`
`
`
`
` ffttttttttt.CattttsLtttttttttttectLttttt=F2Stttttttatast0tattleatateatetltef
`eeeeeEeEeeeeUYowoooooCebcbecebebee-eces&¢tebe8SSsss=f=ffVooooevweeoUwoooCeeeeeUUeeUCbUCEUeUSbeeeOUu&GSebebteouomoooooeoeeeoeUuoeoeUUoeOOOOao=SaitSetteesteteessass=o=o=fwvSCeeevuus
`
`
`
`
`oooOooooooOooomeooOooomeaoOOOOoOoocooooaoaStattatestt2,=SSSataeee=f
`SSft=======aott=f
`SS=eSetteeSseSSSs==)8
`
`
`
`veuueeeLyBeesCoooomiooosoooooeagFERFRRRERRRERRREFRERERRERRRREEFREEEBRrEFREERERF6Beeeeeeeees
`
`
`
`
`
`
`
`vuuUvuuUUUUUYvUUUUUUYvouuLvouuUMouvuuuuUDu
`
`
`
`
`OFYLYULLLLLLYLCOLUULOLULouuUYelelere)|slemmelelelelelelaleo
`
`
`
`FREEFRERERRRRRRRRRRRRRERRFREEEPRERFREFRERREEEBF
`
`
`
`BREEBRRRERRRERRERFRERERRRRERRREREREBRRRERRRRRRREEkK
`
`
`
`vuuUvuuUUUUUvUUUUUUYvouuLvolouovovuuUUDULu
`
`
`
`vuuUvuuUUUUUUvUUUUUUUYvouuLvouuUvovUUUUUDu
`
`2aff.Ftfats2sft2/2f=SasaeetvuuuUDboUUvUUUYDULvouuLvolouovovuuUUDULu
`ooceuroomomocceoVogueoowowoocruoeoeogo
`
`Lott.TtTattttt=fott/t=/|S2=eSeesee~vuuuUUboLVUUUUULUDLYuvouuLvolouovovuuUUDULu
`ftLttttttttttttt=<tsfott/tLottTtBaittttt~ooOooeeveeveeeooouooooOoooOoooooOooooeoooaaouuoCgoguggoooOoooeoowowoocoruooooo
`
`ooBeoeoooeueeseeys@jaeaialololjalgoogag
`SeeSiele<ottotfctittaefooVoeoeeeeeeoeeeooYUooouwooowoooooVoouooo
`
`oo8Boeooeuuesebus@jaeaaaielololjalgoogag
`
`vouNVoULUUUUUYDvUUSeVYULvouwuvouuoovuuuULu
`
`
`BeeueoeoeeuebeEesveuveuugoalololjalvoboouag
`
`vUUUDULvouwuvouuooOuvuuoocegoOouoooogoeooooeOWoOowooooowoooooo2—TTT.Fee===—====.=tvuuUVUvLUUUUUY
`
`
`LTCtttTttttttttttstttotitLtLt~Slelelelelelelelelelelelelcmmclelelelemarels)vouwuvuvuuu
`eeeeeeeeeeeaaoomoowowoo
`
`
`2SStstsatLtLt~OOOOooOVUOUUOUOOUUUUUEUEUUULUooUuouoooouo
`BeeueeeeeeeeseeEeeeeeeesvouLoololag
`
`tttfat=tttttVoeoeoeeeeeeeeeeeeeVeVeeEeUeeUYoowowooooo
`BeusueeeeeeeeseEEeeeeeUBueeoDfFololag
`
` eeneeaeaefeefeeeeeeeLt=<~SlelelssaemeelelelelelelelelelelelelelelelelelelelelelelvuuuoooooomouoCeeeeeeeeereeeeeesowoo=SSeeeeie==tYOVoUVUUUVUUUUUUUUUUUUUUUUUYvuvuuaoooooOmoow
`
`CoCoooQUUUOOOeEeEeVeeVeeeoopoooueowia]i=]
`ttteeLt=<~OoooooVoomeoeeeeeeeeeeeeeeUeOFooono
`BeeaueeeeeueeuBeuEUBuseoUoLEoluoag
`fttitiftiiatVooouoeouUwowooowooueeveeoUUUooowo
`
`
`Beoueeeoeesewanaeaeaeaealealcaieaieaieofeaiesieseleuoag
`vuuuUUUUUUweuVBevEvUboeeDbeLULuu
`TOOTTOsOeatfff=8ft=OStVoeoeoeeeeeeeeoeeoUooooooooooowooo
`BeveveseeeuEuEeseeseeueueuyvbvbvbebBeag
`VoeoeoeeeeeeeeoeeoUooooooooooowooo
`
`OooooeeeeeeeeeerVeeLoooooooooooo
`
`
`elelelelelelelevelelelelelelelelelelelclcleme:cmasmeomecmmele]eo
`BoeuuEseoeeueeseeeeEeeELoeGb#cQo
`
`wouovewwoyoooosoTotootttotsCeoosteacosfVoeoeoeeeeeeeeeeeeVeeVeeUeUY
`
`Slelelelselslelelslelelelelelelelelelelelelem@™cleleleleleleleleleleu
`Slelelelselselslelslelelelelelelelelelelelelelelelelemmelelelelelelelu
`
`
`CoccooouooueeeeeeeeeeeeeeeeeoVoCcuwooeoo
`
`
`Slelelelselslelelslelelelelelelelelelelelelelelelelsmeeleleleleleleu
`Slelelelselslelelslelelelelelelelelelelelelelelelelemmelelelelelelelu
`
`CoCouoooooooeeeeeeeeosOoowooCuoeia]i=]
`Tae.f-ftTe=SFefSeeStSassose=FeeeSeats=SeS&Be~OOoooOoOoUouuouooouoooUuououoouoouo
`
`SaoogeeG6Bebbeteossessoslooeao
`
`Satft££fFFSSsessSet2StSlelelelslsle@eleMtmcmaelelelelelelelelelelemmelelemma!u
`
`oOoooooooOgogooogoooouueoOooceOOa
`=—osfaee=e==SeSeats=Beeee~vuuuUOULUOo8BeeUBeboebbbeLLDu
`
`ooceuoeerooOoooMoweVoguetoo=no
`
`4
`
`EX2075
`
`
`
`Chr4:HTT
`Chr4
`HTT
`
`Personal
`
`IS
`
`Personalis EX2075
`
`

`

`Chr5:SCA12
`
`Personalis EX2075
`
`

`

`16,327,560 bp
`16,327,550 bp
`16,327,500 bp
`16,327,920 bp
`16,327,540 bp
`16,327,560 bp
`
`|
`
`CCCTACTGAGG
`CCCTGCTGAGG
`
`QuogueoooooIoug
`
`
`
`
`
`QuogueooouowooCoovotooowoo
`
`Oooo
`
`OUuogoguuoUoOUoUO
`Ooooouoo
`OoouovooooooBU
`
`ID - $1]
`
`TGCTGA
`
`=a
`
`=PaMSeeeeeee||
`_MWugueuoegeegwouaOUoooooomwuawouMwuguouogmuawuouguug
`_=OoooOo=OooooooooOouaOoOooaMwOoooawuugogyuuaOUoooooomwuawouwugogamuMwuguougog
`
`_OooouOooogoooooMwOwOuoooooOooogoNIoOoooUOooo
`
`
`_wugoogteewouWuugoegaMWugueeeevovogMwuoueugiRRREEEBREPRRFREERFPERE
`
`
`_OooouUoUooooUooooNUOooOoooooouoooOuooouoooouoUow)
`
`
`
`
`FERROEIRPEEERERRERERREREIRIEFREERREwuouueuuuOUOMwooooomMWugueeeeseeegoegMwuoueugiaPREREERRF
`
`Seeeevevevereeeeee2eeeeee__evevereereYesSeescevere__
`
`
`
`
`wuouuogeQUOouoooowomuteewuguogaQUOoUoooowoooOOOOoOmOno
`
`OooouOooogoooooMwOwOoooeOooogoNIoOoooUOooOooo
`
`
`
`oocooueooCoouoIooICosowOWoomoouogoooCcooIoIoIooeoogocooIoIIos
`
`BRREREEREBRREREREREREFRBRBRERREF&FRPORRRRRRRRERBRRRRREEEE
`
`
`PeRELEFREIRIRRIRRRerFRFRPRRFRRREIRRERRERRFIREeReomOWoomooooOoooooooouoeOooooooVeweSealeRa)aeaeeeefeCeSaasClrOlalaselese|Gcecees
`
`
`VoouewwououeeeeoOUououVeooouowooVouoeoeeeeooUwouooeeeeoU
`
`
`
`
`PREPRRERREIRERFRFREERFRREIRERReERRrFREEReRe
`
`
`OoouoIoooooooUoUOLMwOwoeraUuUttootouUguruoououU
`
`
`OoooooKoOoOooOooooooUoLOOoOomoooaouomoooooooeoougocooooouoS
`
`FREERRERFFERS.EREEEREEEEFRIREIRRRREREFREIEERE
`
`vstfetefetafercefefetterftfeafeafertlefalaetfetfetofcterleeleafercyaratafarafer
`Vooveeueewwowi)ywogoveuwVoUi)aRogReerouOuoeveew
`
`
`oCooooouroeoooouCCoeoeoouooerrsoooCcooIooooeoogCucooorose
`
`RRREPRRERIIRRFRRRRRRRRFPFFRE.PRRFFFRR
`Woooooow=yuoUurtouUouOouaOoOoooMwOooo
`RFRERRERREEIeFrRRERREIREIREFeFBREFREREReFeFIERERE
`
`OuooouoooOo=OooooooooOouaOoOooaMwOooo
`MWugueeeevovogaOUoooooomwuawouwugogamuMwuguougog
`
`RRERERREEFIREBERREREEIEREREFEFeRReEBFREREF&FREREEEEE
`FREERFeeFrRRRERREIREIrFeFRRFRRFFEFERREReVooveeeewoooowwoooeewVIeoUUouoowoueoouwooouVoouou
`
`oocoveeegooooooVogeouIolCooooooomoocoeoowOoooo
`RERERRERIEERFFRRRRRRREEEBRERREREF&FREREEEEE=OouoooooooO=eOoooouOoOooaMwOoooaMWuugeeeeeoogaamuguuoueowuwouwugogamuMwuguougog
`FrReERRRERIEIEFoRRRRFeFIREFREEF&FRFFIERERe
`ooooooKoUoUoooooaoaoogocooooOoooomoOogooaooaoOooooo
`OOoOoOVUvUOoUUoOOooOUoouOouovIooooouoOouOooooouOOoooou
`
`
`oogoogouooooCoeurououuooeoeerooomoouoomoUououoo
`FREERREEREmeFRRRRRRFPFIREFRRF&FREFREER
`
`
`FREERRERREIFRRERORRReReREEFIREF&FFeF&FBEFIERERe
`woowoooi)OOOoeyoui)ouaouWoowow
`wouOoooooaMwuougoggOUoUooOoowouawuamuMwuguougog
`
`RRERPRERREIFRRERPPRRRRRRRRRPFOPFFPPFFPPFIERERe
`
`OoOoooooo=OoooOooooooouooOo=ouaMwOooo
`
`wouOoooooaMwuougoggOuguuvegeeguaaawuaMwuguougog
`BRRERERRERRERCREEERERERRRRRRERRRRFEFEF&FRRFEREEEEE
`
`
`OoooevUULLoLUUoOOovUovOoUOoUooOoOvOoOUOUuoooouuoOOoOooOoOU
`
`CoooueCuuuogeeeSooueeeovoeeeeeeereerenooooooooOoooo
`
`PREPRREIEIEIBeeeReeeeeeerOroeOeOeFERREReVoeoveeeeeoeeeUVeereeeUeeeEeEeeoeUEUEUUOUYUowowouooVoouou
`
`
`
`MugueeseeeooegQUOIUooOOIoOooooooeoooaawuMwuguougog
`RREREERREEIREIREIBEIERRRReRREERRRREEFFOPFIERERE
`
`OoouooUoooOooOOuouoooooIoOoooUooeeeeUooN=ouOooo
`
`
`RREERERREEREEMREREERRRRREEIRERRPRERREEERE
`
`
`stfetatfatfteefeteterleraeaelecleeeeteenlerlerelerlereleleefeclerierleeleSEtertlerie
`
`OOoOoOVUvUOoUUoOOooOUOouuoououOoOoooOoVUUoUoOoOoOUOoouoOOoooou
`
`CoCovueovuuouCooeeeoouegoooocoooouuoruoweoooomVocuo
`
`OoouooUoooOooOOoooOoOooooooUoOUOUooOOooo
`VoeoveeeeeeueeNwoooaooVoeeeeeeeeoUWwooaowooo
`
`RREERERRERREERERRRRRPRRREREREEREEREEEEEEOFIRE
`
`
`MugueeseeeooegBOoeooueuceeescueeueuwoeBuscueoeuecwonswuouguug
`
`BRERRERREREREREBRRRERRRBRRRRRRRPREREEEREREEEREEEEBEER
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`MugueeseeeooegQUISoUOIOIoOooeoeeeoeouoooooevueosewuouguug
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`RRERRERREEREEBRRREERERRRRRRRREEREEERERRREEEEEREE
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`RREEREFRREIRRERREReEPFRFRPRERERP.rRRRRRRRERRERRRRRREE
`wuouuogeQUOouoooowomuteeQVOOooCooooooOooooooesoeoouooonS
`PREEREORRRREIRRREEIRIRrFRRRRRRRRRRRRRRERR
`
`OooooOoOoOUooooooooOOOoOvCvuoooOooOoowOoooooom
`oCoocoreueVeeIuoooeeoeroowooveeeevooggneooowoovl
`
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`FREERERREEREREEEEEORBRFPRERRRERRERERFREFREF
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`eveveovevuvevLLLLDeCuUstuUbYLovuLUDCvoLDveLoLBoU
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`QOoIOOoooUoooooooooomuuuWuguuoueoogUuguuvoeooosiRRERRERRERREEREFREIRERRERRERREEIRFERRERREEREERE
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`RERRRERRRERRRRRRRIRRRRRREEFFIRERRREEEREVueseeeeeeeeeemuuuWuguuoeeogyuuMwuoueugiBRIERE
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`FREERERREERRIERERRFREERFERERERREFFRRFREEREE
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`OOOVUOvoUoUoOoOoOoOoOoUoOooUOoOoooUvvoUoooOoouuouou
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`
`RPRRERERREEEIREIRReREIEeeFREERREEFFIERre
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`
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`
`
`RRRRERFREREEllwuaQUOOUOOOOoOooooowwuowQUeouoooooooooooiBEFaRRRRERIEIREREREEIFFFRFERRE
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`ooouVoUoIVVoVoEOUUUULUOUUOoooyUuUoouVUUUUoUUOUouoouou
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`oocevVoCuoooooeoerUeeorCSCoCoeoocoVuouooueeereouCogoerog
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`FREEFRERPRERRERREEREERERPREPRRERERERRERRFRREEP
`
`SoooooooooooeoeeeeeeOooooooooooooooowooo
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`BRREREFRRRPRRRERERERRERRRRRERREREREREFERREREEee
`
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`
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`RREERERePRRFrPRRRRRRRRRRPRRre
`
`RRERREREREEREERRFPRERRERREREFFREPRRSo
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`evesotobesecseobevbeobobobesoebobebe
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`sotat(tat[ttfatatferatfer(aterlorstiltfecietierietearleriatlertieretereriefetetie
`
`OooooooUooUOoLU
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`MuOoooooooOoOoOou
`
`
`Veeeeeeveeeeeeeey
`ooVoeveeeeeeeeeeeouooou
`
`VoeoeeeeeeoeUeUoeeeoeoNU
`ooVeeeeeeeeeoeeeoeVeEUeUUUULU
`
`VoeoeeeeeeoeUeUoeeeoeoNU
`ooVeeeeeeeeeoeeeeEEUUUUUU
`
`FREERERREEREEE
`
`BFERRERRRERRRRERRERRRRREERE
`
`Muueeeeeeeeeeo
`
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`
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`
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`
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`
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`
`Chr6:SCR1
`Chr6
`SCR1
`
`Personal
`
`IS
`
`EX2075
`
`Personalis EX2075
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`
`

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`Chr6:SCR17
`
`Personalis EX2075
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`71,702,530 bp
`71,702,840 bp
`71,702,850 bp
`71,702,560 bp
`71,702,870 bp
`71,702,850 bp
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`ailFf
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`5woooeeeeeooeeeoeNUVeeeeueeeoeoeoeUEUYowouwPEIRREIRRRRERREERREIRRRRRRRRRERRRERPREBERRRREEREERERRRRRP]oUooouoooooooUoooSaoOUuGuoowooOomooouowooaoOoooooooooooooeoeooyoUuooouooNooUooooUON=OoooOoooOust=OoooNoOoNoooUoUOVeeOefitttAtttttttLfAttttAatttttttats=<oePSPSfePafefaaeeefaraefeeiefeeeeei|oCoCooweoocooouuooeooOUuceuooCoCcueererougoee)fitttAttttttatLattttttAttittttre=<oePSPSfePafefaaeeefaraefeeiefeeeeei|OoooeOooooOOoOUoOooooooeeooooOoooooOooowaoOooweaoOOooCoUoooOooeoeolsoSREIRRRERRRERERRRRFERRERRERRRRRRRRREEREEeFEIREFRRRERIRRRERREEE||EOuoooOoooOoooooooooOOuooooooUooOO=Ooo==OooooOUooOoyOwoooVoeoeueueewOeoeoeeveveegwVoeooeeeeuoUoseoowowwoooooeeeooleREIRRRERRERERRRRFERRERRRERRRRRRERRREEREEeFe&RBRRERRREREEE]+REIRRRRRERERRRRFPRERRERRERERRRPRERREREEREEeeeReERRERREEE]|-EOuoooOoooOoooooooooOOuooooooUooOO===OooooOUooOoyOREIRRERERRRERRRRFERRERRRERRRRRRRRREEREEeFFRRERRERREEE|+PEIRRERRRRRERRRRRRRRRRRRRRRRRRRRPEREFeFoFRRRRRRREEE]|FOoooooONoooooUOUOoooooooooOOuooouOoo===OooooOUooOoyOReEIRRRERRERRERRERRRRRRRRRRRPRRRERFERREeeeReERRERREEE]|-EREIRRERRRRRERREE)REIRERRRRRRRRRRRRFRReFFRRERRERREEE|+OoooouOoouOooooooOoUooUooNUOoo===OooooOUooOoyOBRIERERRRRRR)FEIRRRRRRRRRRRRERRRREERFoFRRRRRRREEE]|FREIRREIRRRRRRE)FERRERRRPRERRRRRERORREEEFFRRERRERREEE|+OooouounouOooUuOoooooUOoUIooOVUUUOoOOUoLUouooYUOUOOUNOVOUoOO}UREIRREIRRRBREE)FERRERRRFPRRRRRRERERREEEEEFFRRERRERREEE|+REIRREIRRRRRRRERFERRERRRFPRRRRRRERERREEE=FBRERRERREEEE]|+YwoouueoeUwooeeoeeeeoUVouoeeeeveeoeoeVeUeeNwowowwoveeeeolREIRREIRRRSRERRRRRERRRRRFPRRRRRREREEREEEREeFEIRRRREEFYoooVoooOOUoOoOoOUUoUoOoOooUOoUIooOVUUUOoOOUoLUOouoOoUVIooCoooO)UOoooOUIoOoUoOoooUOooooooooOUOow=OooooooOooooOVUooooUOoUoeoUVoUoOOoNOooooooooOUOow=OooooooPREIREERRRREREEREEERERRRPRRRRRREEEREEEEeBeRRREEE||FOoooooooNOUeEoeooNOooooooooOUOow=MwOoooOoooouooooUoOLOuouoouOooooooooOUOow=MwOoooFEIRREIRRRRERRERRFFERRERRRFPRERRRRREREEREEEREFEBEBRREEE|FPEERERRERREEREERRERERRERRRERREREERERREEREeRFRRRERREE||FouOUOoOoOoOOoUoOoOUOOOOUOOOOOUULLUUUOououoouOOoooo)!UBRERRERRERRREEREEIRBRERRRRREERRRREREEEEEREEEEEeRFRRRERREE||FOwOoouoooooOueSSSeSeeeeeeeeeSeererS|Ououoooo=MwOooooowouoeeeeoUouVeoeoeeeeeeUeeoeeEeeEEEeEULULUVouoowouVoeoeoeo!|oBRERRERRERREEFFRBRRERRRREERRRREREEEEEREEEEeRFRRRERREE||FREIRERRERREERERBRRRRRRREERREREEEEEREeBeBREEFrOooooOvUoOoooOUOueSSSeSeeeeeeeeeSeererS|Oouogogoo=MwOuouwyoPEREERRERRERREEEEERRERCORREEEREEREREEREEEREEEREEEEOFRFRBREEF][rFREIREERRRRREEBEIRERRERREEIEEREREEEEEEREEEEREEREEEFREBREEF][rOooooOVNooooUoUeoeSSSeSeeeeeeeeeSeererS|OooooooooOMwOuouwyoPERERREEREREEERBRRREEREREEREEEEEEREReBREEFrPFEIFERERRRRERREEREEEREERPEERERRREERPEERERREEREEIRRRROPOoouOooooooooeSSSeSeeeeeeeeeSeererS|OooooONooUooOVoUeUUoNyoFREIRERRERERREEEERFREERRRERREEREEEEREEEREEEREREEEREEREEEE]OoouOooooogooo=SSeSeeeSeeeeeeae)OouooooNoUooUOoUoUOeUeeo.etetfetfeefeteatagerarfagerareset,flatfeetfetfetteacfeetferafneraet[a|eactfererfeaafeatfetetfeara||uuguOUuguugueeogaQUOoOUUUooOoOoooooooooooQUOOUOOIOoOoOBooooooooyftttttttTttcs=SSeeteeeeerePeerfeeefeeefeeefeefeeeeeee||OCwoweoVocouoogrTeoVCoueeeeuuuwCoureeurwCeeeeooeeeeeereeereeeeeelsSEIRERRERREEREEFERRERERFREERRRRERERREEFIRRERERRREREERERREEE||PFYOUOIVUVUOVVoOUoOOOUOoooouuuOoooOOvUooOoOvUoUOvUooOoOUUUooOoOUoOULOoooo!ouPEIREERRRRERREEBERRRRRRFRRRRRERRRPRERBEREEREEREEERERRORRREE]PEIRRERRRRERREEREEERRFRRRRRERRPEEREREEREEERERRORRREPVoCourIooooeoeeoSoCouorueeogomeCoureeurwCoureeooeeeeoeerreee)VoeureeoeoUouVwouoeeoeo|oaSeseleSeseeeseSeseeseeeeseeSesese!OoOouooooooOouOooooo
`BECeGGeeSOCCERPCCeeePRCeCeeeeeeeeeeeeee06©€©€©€6€drCUeH
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`FEFEEEREFEEEEREREREEEGEEREREEEREREEeeeeedU6™~«~ECUeee
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`Chr9:FRDA
`Chr9
`-FRDA
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`Personalis EX2075
`
`Personalis EX2075
`
`
`

`

`146,993,560 bp
`146,993,630 bp
`146,993,620 bp
`146,993,610 bp
`146,993,500 bp
`146,993,590 bp
`146,993,550bp
`146,993570 bp
`
`
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`ooocoooooogoaool§
`
`_eeeewobebeceovobeoeBboecsooso&ofaeeeewobebeceovocoeBeoecocsob&&o2OoouUoOoOoUuUeooUeUoUUUuUUoU
`
`lolalo0oeeeoliolea|olooloiooeoleePomsalgaielalea)jao|BMseveveceovovveovovwooogigi
`
`
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`CeevoccolBeeeahofucefboeeecogeeeeccuccjeloGe
`beecoscee)oBoccechose&&oe£8cegbesodececesoe?
`
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`UovevvuuuvueouooooVwououeoeeoooooowouor}
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`eeeBolkeeoeolgiolsBecksbeoeaawO\olajajaaialola)iiaof
`Coureogo|oOWoooogVigiooougoewgaJe.
`
`
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`oOoouvoouUuUueoUoOmooeOoooogomooooooOowaoaf
`
`Oovuooeeeeowooouwooooueooowoooooonoo
`
`
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`esseseeetSlevelelelelelelslelemmelelelemmele]jelelslelelels|cmeclelsmas)o|
`
`
`eeeeckoteecobospocheovcococBecogocsol|
`OooooOooooouiaouOoUooOoCooOooouOoooououof
`
`
`
`eeeceboeeecoBosbRocBeeeococBecobocsglglalaig|aleol|
`
`
`oveceovuveoOOBooBsvovcooBeouBounvvulvuluLof
`oougomooooooVogcuoooueowoooVgeuoougueneoooe
`
`oooOoaoaogoOoooogomooooooaOooVgawaoof
`
`comic.awB\Glalajajaa\olalalaoaoioaloo8SUBcecacomic.awO\glalajajaal\olalalaof
`ovouuveoooovBovcvcveugeoxuoveuvuouvUOUULwo§
`CoeurogoooooVoCgcuoooueowooVgewecugueagogoO\.
`OovuoovoeseoooooOoooeeeoooooOoouoougveooout
`
`
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`eeleioleialso8SUBcecacomic.awO\olajajaaialola)iiaolf
`
`
`eeleioleialsoleawoeGoecoeRicaawO\olajajaaialola)iiaof
`
`eelsolaawoefpcobBicaawO\olajajaaialola)iiaof
`
`
`ovoDoOBeouvooffeoaleleselelelerelelmeelvo|eeeBolkeeoeolgiolsBecksbeeoaalB\olalajaaialola)|eaovevevuve
`
`
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`ttOlolt|-it|e=|0aitftft==o=rt|-t]let|r]t«|i
`
`
`
`eeeoliolea|oloolaiaoefeoeleagigiaielalea)jaof
`eeeckhiseeolooloiooeeleebog©eeeoJ
`Voorn=!oogcoecoooCgeoooooooooe
`OoooOUoOOouuoUoooouououoouoouououg
`eeeeus@euceeb&bbbolgiolsaoioaS|ioof
`
`evevuustoovuLLevveovuvveooeo0vo|
`CoeuroeoougeooooCgeoooooie.
`OovoovooOoooononooueooowoooooooof
`eeejoligialeauaolgiolsaoioaol|
`@@loGiojeeceeeeGojoleaoioool|
`@@loGioBoboeeGojoleaoioa3|
`aoooOnaooOowaoaogoocoomgogoaoomomooMowoooomoooowf
`OovUoUouooouoouooooouououg
`
`eeveeeetehsbeseechGojoleaoioaolf
`
`evevvoveyvLuULoLvULULOELvOovw0o|
`
`
`VoureoouueCueroueeeooerueoeeogooog
`VouorooUowwoVwoeoeeouUoooowooooof
`eee&oeoWseloesolsaaaof
`eee&oeolselsesoleaaaolf
`evevvouseyvuvvueveyvovo00vf
`FREREREEIFeFREEFPEbEEFI
`
`LtttttttttftAtti.Ast=<t<oOoouvuovuouoeoueoUoOomoooooaaoaoog
`
`
`Slevelelelelelelelelelereleleleleele]jelelslelcmaslfelcmeamas)of
`|
`
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`eeeoeeeo6OOBioecRsbelococBRicealoeglylgiule|alaaolf
`
`
`eeeooleaeoeOooOBoecRsbeococBocobocsglylgiale|alaao)
`ovwvovo»vooovBovcvcveugeoxuovevuvuvUoL]eevo|
`oooVogeoogoccooowocougowooBigewoougueaweoooF
`BERREREREFFeRREREEEROkekekeef
`
`
`eecekobebeeeobosSeBboecssees&&o
`
`oCoeoeeereruereogcoecooooCgeoooooooO
`
`
`eeeewbobeecsoboeSeBboecocosbeso
`SSSSSees
`
`oouereeeeuergow=]ooVoCgcuoooueoomoooyigiooooO
`
`
`
`
`eeecebobeecoBosSRocBeeeococBecobocsalae}|ielaloo
`oouwouowoooooVwououeoeeoouoooVogoouoceuooeor
`ooobbeeoo8SUBceca
`ooogluia]oOyoooooouooowOWooOggeougoogogoo
`
`OooooooeSaogoOoooogomooooooaOooVgawaoa
`
`
`eovevuuvoyooovscuvcvcveugexuovaleeelelelereleelo
`oouwuoewooooooouwoooouooVououuoovooooor
`oooOouemoooeooooomoOoOOaooOooomVgaogoowaoa
`oOoouuooowaoogooeaoooaooooaogowowaoaoa
`Vouoooowoooooooowooooor
`ooeuogsooooooecoooogeooooooooooo
`eeegees@eucesb&bbboeeleeboeoao8o
`eeeeucesu&bboeeleeboeoao
`
`OoooooowOoOouooaoaoOooteoomgogoa
`wwbonooveuLve2Boeoovovw0o
`i)oooui)wowi)i)aouooooa=I
`
`
`eweseoiclsoeobeoeGojoleaoioao
`
`
`eeeolebeseeobobebeoboebeaoioao
`eee&oeolsel