The MedSeq Project

Genome sequencing services are increasingly being utilized by physicians and their patients in both research and clinical settings. Developing standards and procedures for the use of sequencing information in clinical medicine is an urgent need with numerous obstacles to integrity and storage of sequencing data, interpretation, and responsible clinical integration. The MedSeq Project, funded by … Continued

Publications

2018

2017

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

O’Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick D, Bowling KM, Chao EC, Chung WK, Conlin LK, Cooper GM, Das S, Deignan JL, Dorschner MO, Evans JP, Ghazani AA, Goddard KA, Gornick M, Farwell Hagman KD, Hambuch T, Hegde M, Hindorff LA, Holm IA, Jarvik GP, Knight Johnson A, Mighion L, Morra M, Plon SE, Punj S, Richards CS, Santani A, Shirts BH, Spinner NB, Tang S, Weck KE, Wolf SM, Yang Y, Rehm HL
Genetics In Medicine May 2017  

2016

Clinical Sequencing Exploratory Research Consortium: Accelerating the evidence-based practice of genomic medicine

Green RC, Goddard KAB, Jarvik GP, Amendola LM, Appelbaum PS, Berg J S, Bernhardt Biesecker LG, Biswas S, Blout CL, Bowling KM, BrOther KB, Burke W, Caga-anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Huckaby Lewis M, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, et al.
American Journal of Human Genetics Jun 2016  

Performance of ACMG/AMP variant interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research consortium

Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL.
American Journal of Human Genetics Jun 2016  

Toward clinical genomics in everyday medicine: Perspectives and recommendations

Delaney SK, Hultner ML, Jacob HJ, Ledbetter DH, McCarthy JJ, Ball M, Beckman KB, Belmont JW, Bloss CS, Christman MF, Cosgrove A, Damiani SA, Danis T, Delledonne M, Dougherty MJ, Dudley JT, Faucett WA, Friedman JR, Haase DH, Hays TS, Heilsberg S, Huber J, Kaminsky L, Ledbetter N, Lee WH, Levin E, Libiger O, Linderman M, Love RL, Magnus DC, Martland A, McClure SL, Megill SE, Messier H, Nussbaum RL, Palaniappan L, Patay BA, Popovich BW, Quackenbush JF, Savant MJ, Su MM, Terry SF, Tucker S, Wong WT, Green RC.
Expert Review of Molecular Diagnostics Feb 2016  

2015

2014

2013