GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data - Babadi, Mehrtash; Fu, Jack M.; Lee, Samuel K.; Smirnov, Andrey N.; Gauthier, Laura D.; Walker, Mark; Benjamin, David I.; Zhao, Xuefang; Karczewski, Konrad J.; Wong, Isaac; Collins, Ryan L.; Sanchis-Juan, Alba; et al. (Nature genetics, 2023)
Keywords: 631/208/212; 692/308/2056; Agriculture; Algorithms; Animal Genetics and Genomics; Autism; Biobanks; Biomedical and Life Sciences; Biomedicine; Cancer Research; Chromosome Mapping; Copy number; Discovery tools; Disease; DNA Copy Number Variations - genetics; DNA microarrays; Exome - genetics; Exome Sequencing; Exons; Gene Function; Gene sequencing; Genetic diversity; Genetic engineering; Genomes; Human Genetics; Humans; Proteins; technical-report; Whole genome sequencing; United Kingdom--UK