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Research

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

  • Laura M. Amendola
  • Michael O. Dorschner
  • Peggy D. Robertson
  • Joseph S. Salama
  • Ragan Hart
  • Brian H. Shirts Mitzi L. Murray Mari J. Tokita Carlos J. Gallego Daniel Seung Kim James T. Bennett David R. Crosslin Jane Ranchalis Kelly L. Jones Elisabeth A. Rosenthal Ella R. Jarvik Andy Itsara Emily H. Turner Daniel S. Herman Jennifer Schleit Amber Burt Seema M. Jamal Jenica L. Abrudan Andrew D. Johnson Laura K. Conlin Matthew C. Dulik Avni Santani Danielle R. Metterville Melissa Kelly Ann Katherine M. Foreman Kristy Lee Kent D. Taylor Xiuqing Guo Kristy Crooks Lesli A. Kiedrowski Leslie J. Raffel Ora Gordon Kalotina Machini Robert J. Desnick Leslie G. Biesecker Steven A. Lubitz Surabhi Mulchandani Greg M. Cooper Steven Joffe C. Sue Richards Yaoping Yang Jerome I. Rotter Stephen S. Rich Christopher J. O’Donnell Jonathan S. Berg Nancy B. Spinner James P. Evans Stephanie M. Fullerton Kathleen A. Leppig Robin L. Bennett Thomas Bird Virginia P. Sybert William M. Grady Holly K. Tabor Jerry H. Kim Michael J. Bamshad Benjamin Wilfond Arno G. Motulsky C. Ronald Scott Colin C. Pritchard Tom D. Walsh Wylie Burke Wendy H. Raskind Peter Byers
  • ... [+64 authors] ...,
  • Fuki M. Hisama
  • Heidi Rehm
  • Debbie A. Nickerson
  • Gail P. Jarvik
  • First Published January 30, 2015
Method

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

  • Joseph B. Hiatt
  • Colin C. Pritchard
  • Stephen J. Salipante
  • Brian J. O'Roak
  • Jay Shendure
  • First Published February 4, 2013
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