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Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
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Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 02 28; 45(4):1633-1648.
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PubMed
subject areas
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
authors with profiles
CHAD SHAW
JOHN BELMONT
ERIC BOERWINKLE
RICHARD GIBBS
JAMES LUPSKI
DONNA MUZNY
BO YUAN