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ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies.
Glessner JT, Li J, Liu Y, Khan M, Chang X, Sleiman PMA, Hakonarson H. Glessner JT, et al. Eur J Hum Genet. 2023 Mar;31(3):304-312. doi: 10.1038/s41431-022-01222-7. Epub 2022 Nov 1. Eur J Hum Genet. 2023. PMID: 36316489
Improved copy number variation (CNV) detection remains an area of heavy emphasis for algorithm development; however, both CNV curation and disease association approaches remain in its infancy. ...The code is fast and efficient, allowing for the …
Improved copy number variation (CNV) detection remains an area of heavy emphasis for algorithm development; however, bo …
MONTAGE: a new tool for high-throughput detection of mosaic copy number variation.
Glessner JT, Chang X, Liu Y, Li J, Khan M, Wei Z, Sleiman PMA, Hakonarson H. Glessner JT, et al. BMC Genomics. 2021 Feb 24;22(1):133. doi: 10.1186/s12864-021-07395-7. BMC Genomics. 2021. PMID: 33627065 Free PMC article.
Montage directly interfaces with ParseCNV2 algorithm to establish disease phenotype genome-wide association and determine which genomic ranges had more or less than expected frequency of mosaic events. ...We additionally investigated the allele imbalan …
Montage directly interfaces with ParseCNV2 algorithm to establish disease phenotype genome-wide association and …