Article

seGMM: a new tool to infer sex from massively parallel sequencing data

2021-12-17

Abstract excerpt

Inspecting concordance between self-reported sex and genotype-inferred sex from genomic data is a significant quality control measure in clinical genetic testing. Numerous tools have been developed to infer sex for genotyping array, whole-exome sequencing, and whole-genome sequencing data. However, improvements in sex inference from targeted gene sequencing panels are warranted. Here, we propose a new tool, seGMM,...

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Literature Corpus work: bf39cabc-fded-5e27-88f7-4400baaec95e
DOI: 10.1101/2021.12.16.472877

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