Evaluation and Analysis of Absence of Homozygosity (AOH) Using Chromosome Analysis by Medium Coverage Whole Genome Sequencing (CMA-seq) in Prenatal Diagnosis.

Diagnostics (Basel, Switzerland)（2023）

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摘要

Based on our newly developed bioinformatic algorithm, it is feasible to detect clinically significant AOH using CMA-seq in prenatal diagnosis.

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关键词

absence of homozygosity (AOH),chromosomal microarray analysis (CMA),medium coverage genome sequencing,prenatal diagnosis

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