Evaluating the efficacy of three carrier screening workflows designed to identify at‐risk carrier couples
Author:
Affiliation:
1. Myriad Women's Health South San Francisco California USA
2. Myriad Genetics, Inc. Salt Lake City Utah USA
Publisher
Wiley
Subject
Genetics(clinical),Obstetrics and Gynaecology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/pd.5900
Reference17 articles.
1. Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening
2. Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach
3. Committee Opinion No. 690 Summary: Carrier Screening in the Age of Genomic Medicine
4. A data-driven evaluation of the size and content of expanded carrier screening panels
5. Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification
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