Pathogenic Variant-Based Preconception Carrier Screening in the Israeli Jewish Population.
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DOI: 10.1111/cge.14131
Abstract: Preconception carrier screening allows identification of couples at risk to have offspring with autosomal recessive and X-linked disorders. In a current multiethnic world, the screening based on self-reported ancestry has limitations. Here we describe the… read more here.
Keywords: carrier screening; carrier; population; variant based ... See more keywords