Structural variant calling: the long and the short of it
Baylor College of Medicine · Baylor Genetics · +3 more institutions
Abstract
Recent research into structural variants (SVs) has established their importance to medicine and molecular biology, elucidating their role in various diseases, regulation of gene expression, ethnic diversity, and large-scale chromosome evolution-giving rise to the differences within populations and among species. Nevertheless, characterizing SVs and determining the optimal approach for a given experimental design remains a computational and scientific challenge. Multiple approaches have emerged to target various SV classes, zygosities, and size ranges. Here, we review these approaches with respect to their ability to infer SVs across the full spectrum of large, complex variations and present computational…
Citation impact
- FWCI
- 28.54
- Percentile
- 100%
- References
- 106
Authors
6- MMMedhat MahmoudCorresponding
Baylor College of Medicine, Baylor Genetics
- NGNastassia Gobet
SIB Swiss Institute of Bioinformatics, University of Lausanne
- DIDiana Ivette Cruz-Dávalos
SIB Swiss Institute of Bioinformatics, University of Lausanne
- NMNinon Mounier
SIB Swiss Institute of Bioinformatics
- CDChristophe Dessimoz
SIB Swiss Institute of Bioinformatics, University College London, University of Lausanne
Topics & keywords
- Biology
- Human genetics
- Evolutionary biology
- Computational biology
- Chromosome
- Genetics
- Gene
- Life in Land
Funding
- NSNational Science Foundation
- FFFoundation for the National Institutes of HealthAward: UM1 HG008898
- SNSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungAwards: 150654, 31003A_173182, 31003A-143914
- UDUniversité de Lausanne
- NINational Institutes of Health
- HEH2020 European Research Council