학술논문
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
Document Type
Article
Author
Tisserant, E.; Vitobello, A.; Bruel, A.-L.; Sorlin, A.; Nambot, S.; Moutton, S.; Racine, C.; Garde, A.; Delanne, J.; Tran-Mau-Them, F.; Philippe, C.; Kuentz, P.; Poe, C.; Thauvin-Robinet, C.; Faivre, L.; Mosca-Boidron, A.-L.; Thevenon, J.; Duffourd, Y.; Callier, P.; Callegarin, D.; Verdez, S.; Viora-Dupont, E.; Konyukh, M.; Marle, N.; Poulleau, M.; Payet, M.; Aho Glele, L.S.
Source
In: Annals of Human Genetics . (Annals of Human Genetics, July 2022, 86(4):171-180)
Subject
Language
English
ISSN
14691809
00034800
00034800