Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

Nucleic acids research

Volumn 45, Issue 4, 2017, Pages 1633-1648

  Gambin, Tomasz ^a   Akdemir, Zeynep C ^a   Yuan, Bo ^a   Gu, Shen ^a   Chiang, Theodore ^a   Carvalho, Claudia M B ^a   Shaw, Chad ^a   Jhangiani, Shalini ^a   Boone, Philip M ^a   Eldomery, Mohammad K ^a   Karaca, Ender ^a   Bayram, Yavuz ^a   Stray Pedersen, Asbjørg ^a   Muzny, Donna ^a   Charng, Wu Lin ^a   Bahrambeigi, Vahid ^a   Belmont, John W ^a   Boerwinkle, Eric ^a,b   Beaudet, Arthur L ^a   Gibbs, Richard A ^a   Lupski, James R ^a   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

ALGORITHM; ALTERNATIVE RNA SPLICING; BIOLOGICAL MODEL; BIOLOGY; COHORT ANALYSIS; CONSANGUINITY; COPY NUMBER VARIATION; EXOME; GENE DELETION; GENETIC DISEASES, INBORN; GENETICS; HEMIZYGOTE; HIGH THROUGHPUT SEQUENCING; HOMOZYGOTE; HUMAN; INFORMATION PROCESSING; INHERITANCE; PEDIGREE; PROCEDURES; REPRODUCIBILITY; WORKFLOW;

ALGORITHMS; ALTERNATIVE SPLICING; COHORT STUDIES; COMPUTATIONAL BIOLOGY; CONSANGUINITY; DATASETS AS TOPIC; DNA COPY NUMBER VARIATIONS; EXOME; GENETIC DISEASES, INBORN; HEMIZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; INHERITANCE PATTERNS; MODELS, GENETIC; PEDIGREE; REPRODUCIBILITY OF RESULTS; SEQUENCE DELETION; WORKFLOW;

EID: 85016091744     PISSN: None     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gkw1237     Document Type: Article

References (0)