Challenges for the implementation of next generation sequencing-based expanded carrier screening: Le...
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Contents
Next generation sequencing (NGS) can detect carrier status for rare recessive disorders, informing couples about their reproductive risk. The recent ACMG recommendations support offering NGS-based carrier screening (NGS-CS) in an ethnic and population-neutral manner for all genes that have a carrier frequency >1/200 (based on GnomAD). To evaluate c...
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Full title
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10400553
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10400553
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-022-01267-8
