A universal carrier test for the long tail of Mendelian disease

Srinivasan, Balaji S.; Evans, Eric A.; Flannick, Jason; Patterson, A. Scott; Chang, Christopher C.; Pham, Tuan; Young, Sharon; Kaushal, Amit; Lee, James; Jacobson, Jessica L.; Patrizio, Pasquale

doi:10.1016/j.rbmo.2010.05.012

« Previous Next »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
- Counsyl, Redwood Shores, CA, USA
- Department of Computer Science, Stanford University, Stanford, CA, USA
- Department of Statistics, Stanford University, Stanford, CA, USA
- Corresponding author.
- These authors contributed equally to this work.
Eric A. Evans
- Counsyl, Redwood Shores, CA, USA
- These authors contributed equally to this work.
Jason Flannick
- Counsyl, Redwood Shores, CA, USA
- Current affiliation: Broad Institute of Harvard and MIT, Cambridge, MA, USA
A. Scott Patterson
- Counsyl, Redwood Shores, CA, USA
Christopher C. Chang
- Counsyl, Redwood Shores, CA, USA
- Department of Mathematics, UCSD, La Jolla, CA, USA
Tuan Pham
- Counsyl, Redwood Shores, CA, USA
Sharon Young
- Counsyl, Redwood Shores, CA, USA
Amit Kaushal
- 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
- 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
- Counsyl, Redwood Shores, CA, USA
- Department of Pathology, New York University School of Medicine, New York, NY, USA
Pasquale Patrizio
- Counsyl, Redwood Shores, CA, USA
- Yale University Fertility Center, Yale University, New Haven, CT, USA

Received 22 March 2010; received in revised form 22 May 2010; accepted 24 May 2010. published online 23 August 2010.

Declaration: All authors are consultants or employees of Counsyl. Seed funding for this study was provided by a group of anonymous philanthropists and families with genetic disease.

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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.