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