Article

A Custom Array-Based Platform for Expanded Carrier Screening in a Chinese Population

2025-02-04

Abstract excerpt

<title>Abstract</title> <p>Expanded carrier screening (ECS) is crucial in preconception and early pregnancy care for identifying couples at risk of having children with autosomal recessive or X-linked conditions. This study developed a custom ECS array using an array platform designed to detect single nucleotide variations (SNVs) and indels across 1,625 genes associated with more than 1,000 genetic disorders. To...

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Literature Corpus work: ced08ae2-5536-5a0b-81fa-2b68e63d88ea
DOI: 10.21203/rs.3.rs-5894153/v1

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