Article

Secondary findings in a large Pakistani cohort tested with whole genome sequencing

2022-08-16

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Studies in the field of genomic secondary findings (SF) are diverse regarding participants’ characteristics; sequencing methods; versions of the ACMG SF gene list. <h4>Aim and methods</h4> Based on whole genome sequencing (WGS) and version 3.1 of ACMG SF list (ACMG SF), we studied SF in 863 individuals from Pakistan: 62% males; 80% had consanguineous parents. In addition to th...

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Literature Corpus work: 86aab4d6-ba5e-5ba0-9b28-cf9a7412a49c
DOI: 10.1101/2022.08.14.22278472

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