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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.

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Title: 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.
Authors: Tisserant, Emilie1 (AUTHOR), Vitobello, Antonio1,2 (AUTHOR), Callegarin, Davide2 (AUTHOR), Verdez, Simon2 (AUTHOR), Bruel, Ange‐line1 (AUTHOR), Aho Glele, Ludwig Serge3 (AUTHOR), Sorlin, Arthur1,2 (AUTHOR), Viora‐Dupont, Eleonore2 (AUTHOR), Konyukh, Marina2 (AUTHOR), Marle, Nathalie2 (AUTHOR), Nambot, Sophie1,3 (AUTHOR), Moutton, Sébastien1,2,4 (AUTHOR), Racine, Caroline1,2,5 (AUTHOR), Garde, Aurore1,2 (AUTHOR), Delanne, Julian1,5 (AUTHOR), Tran‐Mau‐Them, Frédéric1 (AUTHOR), Philippe, Christophe1,2 (AUTHOR), Kuentz, Paul1 (AUTHOR), Poulleau, Marlène2 (AUTHOR), Payet, Muriel2 (AUTHOR)
Source: Annals of Human Genetics. Jul2022, Vol. 86 Issue 4, p171-180. 10p.
Database: Academic Search Ultimate
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  Data: 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.
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