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-Reference-Cited by-同舟云学术

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

Published:2022-02-09 Issue:4 Volume:86 Page:171-180
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Tisserant Emilie¹,Vitobello Antonio¹²^ORCID,Callegarin Davide²,Verdez Simon²^ORCID,Bruel Ange‐line¹^ORCID,Aho Glele Ludwig Serge³^ORCID,Sorlin Arthur¹²^ORCID,Viora‐Dupont Eleonore²^ORCID,Konyukh Marina²,Marle Nathalie²^ORCID,Nambot Sophie¹³^ORCID,Moutton Sébastien¹²⁴^ORCID,Racine Caroline¹²⁵^ORCID,Garde Aurore¹²^ORCID,Delanne Julian¹⁵^ORCID,Tran‐Mau‐Them Frédéric¹^ORCID,Philippe Christophe¹²^ORCID,Kuentz Paul¹^ORCID,Poulleau Marlène²,Payet Muriel²,Poe Charlotte¹,Thauvin‐Robinet Christel¹⁵⁴^ORCID,Faivre Laurence¹⁵⁴^ORCID,Mosca‐Boidron Anne‐Laure¹²^ORCID,Thevenon Julien¹⁵^ORCID,Duffourd Yannis¹^ORCID,Callier Patrick¹²^ORCID

Affiliation:

1. Inserm UMR 1231 GAD, Faculty of Health Sciences University of Burgundy and Franche‐Comté Dijon France

2. Molecular and chromosomal genetics laboratory, Biology Transfer Platform Dijon University Hospital Dijon France

3. Hospital Hygiene and Epidemiology Unit Dijon University Hospital Dijon Cedex France

4. Reference Center for Intellectual Disorders Dijon University Hospital Dijon France

5. Genetics Department and Reference Center for Developmental Disorders and Malformative Syndromes for East France, FHU TRANSLAD Dijon University Hospital Dijon France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12459

Reference34 articles.

1. Comparative analysis of methods for identifying somatic copy number alterations from deep sequencing data

2. The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children;Bartnik M.;Developmental Periodics in Medical,2014

3. Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

4. Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population

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