Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort
Authors: Tomasz Gambin Zeynep C. Akdemir Bo Yuan Shen Gu Theodore Chiang Claudia M.B. Carvalho Chad Shaw Shalini Jhangiani Philip M. Boone Mohammad K. Eldomery Ender Karaca Yavuz Bayram Asbjørg Stray-Pedersen Donna Muzny Wu-Lin Charng Vahid Bahrambeigi John W. Belmont Eric Boerwinkle Arthur L. Beaudet Richard A. Gibbs James R. Lupski
Published in: Nucleic Acids Research(tom: 45 (4), strony: 1633-1648), Wydawca:Oxford Academic
Publication type: article
Subject areas: Biochemistry, Genetics and Molecular Biology
SJR best quartile: Q1