A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
Julianne M O'DanielHeather M McLaughlinLaura M AmendolaSherri J BaleJonathan S BergDavid BickKevin M BowlingElizabeth C ChaoWendy K ChungLaura K ConlinGregory M CooperSoma DasJoshua L DeignanMichael O DorschnerJames P EvansArezou A GhazaniKatrina A B GoddardMichele C GornickKelly D F HagmanTina HambuchMadhuri HegdeLucia A HindorffIngrid A HolmGail P JarvikAmy Knight JohnsonLindsey MighionMassimo MorraSharon E PlonSumit PunjCarolyn Sue RichardsAvni SantaniBrian H ShirtsNancy B SpinnerSha TangKaren E WeckSusan M WolfYaping YangMichael J BamshadPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
This study provides an overview of practices and policies of experienced exome and genome sequencing laboratories. The results enable broader consideration of which practices are becoming standard approaches, where divergence remains, and areas of development in best practice guidelines that may be helpful.Genet Med advance online publication 03 Novemeber 2016.