`To:
`Cc:
`Subject:
`Date:
`
`Mark Pratt
`Mark Pratt; Shujun Luo
`John West; Christian Haudenschild
`quick notes on lab sequencing from discussion with JW
`Tuesday, July 24, 2012 3:43:38 PM
`
`Budgeted for full time operation of HiSeq through 2013
`
`1) Establish operational baseline on HiSeq
`Amy 2x100 @ 300bp fragments, 30-40x WGS + Exome, modern chemistry
`2) Establish Personalis Mainstream Diversity Panel (PMDP = likely customer ethnic profiles)
`Set of high quality, good coverage genomes of common ethnicities:
`European, Chinese, Japanese, Indian, African American, Hispanic American
`Balance male / female
`Attempt to start with members of trios (preferably having 1kG coverage and/or exomes
`to augment)
`Start with single members and later expand to full trios
`Outsource sequencing if internal resources too occupied with #3 below
`3) Develop and Demo Personalis WGS+ and Exome+
`Develop pullouts to extend coverage of interpretable content (exome + custom pullout)
`SV junction pullout for sequencing (include jcns and insert/del)
`Problem-specific pullouts and libraries (Compressions, SD, STR, Hompolymers) - may
`require long fragments
`Optimize sequencer parameters for accuracy and not necessarily cost (e.g. read length,
`density)
`Prepare for longer reads from ILMN in fall
`4) Customers and collaborations
`Probably most exome on 3Q
`Move quickly - ASHG?
`
`Personalis EX2074
`
`
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