Multi-platform discovery of haplotype-resolved structural variation in human genomes
University of Southern California · University of Washington · +37 more institutions
Abstract
The incomplete identification of structural variants (SVs) from whole-genome sequencing data limits studies of human genetic diversity and disease association. Here, we apply a suite of long-read, short-read, strand-specific sequencing technologies, optical mapping, and variant discovery algorithms to comprehensively analyze three trios to define the full spectrum of human genetic variation in a haplotype-resolved manner. We identify 818,054 indel variants (
Citation impact
- FWCI
- 58.36
- Percentile
- 100%
- References
- 68
Authors
97- MCMark Chaisson
University of Southern California, University of Washington
- ADAshley D. Sanders
European Molecular Biology Laboratory
- XZXuefang Zhao
Harvard University, University of Michigan, Massachusetts General Hospital
- AMAnkit Malhotra
Jackson Laboratory
- DPDavid Porubskỳ
University of Groningen, Max Planck Institute for Informatics, Saarland University
Topics & keywords
- Indel
- Structural variation
- Genome
- Haplotype
- 1000 Genomes Project
- Human genome
- Computational biology
- Biology