Article
Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings.
Human genetics - 1 Mar 2021
Reble Emma, Gutierrez Salazar Mariana, Zakoor Kathleen-Rose, Khalouei Sam, Clausen Marc, Kodida Rita, Shickh Salma, Mighton Chloe, Cohn Iris, Schrader Kasmintan A, Kim Raymond H, Lerner-Ellis Jordan, Bombard Yvonne
Abstract excerpt
Genomic sequencing advances have increased the potential to identify secondary findings (SFs). Current guidelines recommend the analysis of 59 medically actionable genes; however, patient preferences indicate interest in learning a broader group of SFs. We aimed to develop an analytical pipeline for the efficient analysis and return of all clinically significant SFs. We developed a pipeline consisting of...
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