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Expanded carrier screening for inherited genetic disease using exome and genome sequencing

27 Aug 2024

Abstract excerpt

The goal of this study was to assess the feasibility of using exome (ES) and genome sequencing (GS) in guiding preconception genetic screening (PCGS) for couples who are planning to conceive by creating a workflow for identifying risk alleles for autosomal recessive (AR) and X-linked (XL) disorders without the constraints of a predetermined, targeted gene panel. There were several limitations and challenges...

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Cystic Fibrosis Research Advances
Genomics and Rare Diseases
Prenatal Screening and Diagnostics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39189540
DOI: 10.1002/jgc4.1964

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