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Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.
Ann Hum Genet. 2022 Jul;86(4):171-180. doi: 10.1111/ahg.12459. Epub 2022 Feb 9.
Ann Hum Genet. 2022.
PMID: 35141892
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