Structural variant identification and characterization
Author:
Funder
National Institute of General Medical Sciences
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10577-019-09623-z.pdf
Reference160 articles.
1. 1000 Genomes Project Consortium et al (2010) A map of human genome variation from population-scale sequencing. Nature 467:1061–1073. https://doi.org/10.1038/nature09534
2. 1000 Genomes Project Consortium et al (2015) A global reference for human genetic variation. Nature 526:68–74. https://doi.org/10.1038/nature15393
3. Abyzov A, Urban AE, Snyder M, Gerstein M (2011) CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res 21:974–984. https://doi.org/10.1101/gr.114876.110
4. Amarasinghe KC, Li J, Hunter SM, Ryland GL, Cowin PA, Campbell IG, Halgamuge SK (2014) Inferring copy number and genotype in tumour exome data. BMC Genomics 15:732. https://doi.org/10.1186/1471-2164-15-732
5. Audano PA et al (2019) Characterizing the major structural variant alleles of the human genome. Cell 176:663–675 e619. https://doi.org/10.1016/j.cell.2018.12.019
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