Genetic counseling and screening of consanguineous couples and their offspring practice resource: Focused Revision.
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DOI: 10.1002/jgc4.1477
Abstract: There are no evidence-based guidelines to inform genetic counseling for consanguineous couples and their offspring. This focused revision builds on the expert opinions from the original publication of "Genetic Counseling and Screening of Consanguineous Couples… read more here.
Keywords: focused revision; counseling; genetic counseling; consanguineous couples ... See more keywords
Exome‐based preconception carrier testing for consanguineous couples in China
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DOI: 10.1002/pd.6018
Abstract: To evaluate the utility of clinical exome sequencing (ES)‐based carrier screening in Chinese consanguineous couples. read more here.
Keywords: preconception carrier; based preconception; consanguineous couples; exome based ... See more keywords
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108607
Abstract: Background Consanguineous couples have an increased risk of severe diseases in offspring due to autosomal recessive disorders. Exome sequencing (ES) offers the possibility of extensive preconception carrier screening (PCS) in consanguineous couples who may be… read more here.
Keywords: carrier; carrier screening; consanguineous couples; exome sequencing ... See more keywords