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Going beyond the guidelines: a call for expanded carrier screen based on an analysis of 3,208 clinical samples

Authors :
Greg Kellogg
A. Huang
B. Chu
N. Kumar
S. Rodriguez
Alexander Bisignano
M. Surrey
Santiago Munné
Source :
Fertility and Sterility. 102:e77
Publication Year :
2014
Publisher :
Elsevier BV, 2014.

Abstract

range from ancient-and-common polymorphisms with minimal effects to recent-and-rare mutations predicted to have larger effects on the phenotype. Applying NGS and IBD analysis using nuclear families, we were able to identify 5 candidate endometriosis regions that show excess genetic burden. A more complete picture of the genetics of endometriosis is likely to emerge as additional WGS data are analyzed. Supported by: Juneau Biosciences.

Details

ISSN :
00150282
Volume :
102
Database :
OpenAIRE
Journal :
Fertility and Sterility
Accession number :
edsair.doi...........2e25c26914f71f1f97c8862c5c121a89
Full Text :
https://doi.org/10.1016/j.fertnstert.2014.07.261