Reproductive BioMedicine Online
Volume 21, Issue 4 , Pages 537-551 , October 2010

A universal carrier test for the long tail of Mendelian disease

  • Balaji S. Srinivasan

      Affiliations

    • Counsyl, Redwood Shores, CA, USA
    • Department of Computer Science, Stanford University, Stanford, CA, USA
    • Department of Statistics, Stanford University, Stanford, CA, USA
    • Corresponding Author InformationCorresponding author.
    • These authors contributed equally to this work.
    • ,
  • Eric A. Evans

      Affiliations

    • Counsyl, Redwood Shores, CA, USA
    • These authors contributed equally to this work.
    • ,
  • Jason Flannick

      Affiliations

    • Counsyl, Redwood Shores, CA, USA
    • Current affiliation: Broad Institute of Harvard and MIT, Cambridge, MA, USA
    • ,
  • A. Scott Patterson

      Affiliations

    • Counsyl, Redwood Shores, CA, USA
    • ,
  • Christopher C. Chang

      Affiliations

    • Counsyl, Redwood Shores, CA, USA
    • Department of Mathematics, UCSD, La Jolla, CA, USA
    • ,
  • Tuan Pham

      Affiliations

    • Counsyl, Redwood Shores, CA, USA
    • ,
  • Sharon Young

      Affiliations

    • Counsyl, Redwood Shores, CA, USA
    • ,
  • Amit Kaushal

      Affiliations

    • Counsyl, Redwood Shores, CA, USA
    • Stanford Medical School, Stanford University, Stanford, CA, USA
    • Stanford Genome Technology Center, Stanford University, Stanford, CA, USA
    • Program in Biomedical Informatics, Stanford University, Stanford, CA, USA
    • ,
  • James Lee

      Affiliations

    • Counsyl, Redwood Shores, CA, USA
    • The Personal Genome Project, Harvard University, Cambridge, MA, USA
    • Department of Psycology, Harvard University, Cambridge, MA, USA
    • ,
  • Jessica L. Jacobson

      Affiliations

    • Counsyl, Redwood Shores, CA, USA
    • Department of Pathology, New York University School of Medicine, New York, NY, USA
    • ,
  • Pasquale Patrizio

      Affiliations

    • Counsyl, Redwood Shores, CA, USA
    • Yale University Fertility Center, Yale University, New Haven, CT, USA

Received 22 March 2010 ,Revised 22 May 2010 ,Accepted 24 May 2010.

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 Balaji S Srinivasan taught computational genomics and statistics at Stanford before becoming Chief Technology Officer (CTO) of Counsyl. His research interests include machine learning, personalized medicine and the biology and diagnosis of rare genetic variants.

PII: S1472-6483(10)00336-6

doi: 10.1016/j.rbmo.2010.05.012

Reproductive BioMedicine Online
Volume 21, Issue 4 , Pages 537-551 , October 2010

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