Detection of de novo genetic variants in Mayer-Rokitansky-Kuster-Hauser syndrome by whole genome sequencing.

ABSTRACT:

Objective

The aim of this study was to use whole genome sequencing (WGS) help detect de novo mutations or pathogenic genes of Mayer-Rokitansky-Küster-Hauser syndrome type 1(MRKH syndrome type 1).

Study design

This was a case-parent trios study. Nine unrelated probands, with MRKH syndrome type 1 and their parents were enrolled. The enrollment, sequencing process, establishment of the de novo mutations detecting procedure and experiment part were performed over a 2-year period.

Results

we detected 632 de novo single nucleotide variants (SNVs), 267 de novo small insertions/deletions (indels), 39 de novo structural variations (SVs) and 28 de novo copy number alterations (CNAs). Three novel damaging coding de novo SNVs with three d

SUBMITTER: Pan HX 

PROVIDER: S-EPMC6728744 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature