De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations
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Title
De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations
Authors
Keywords
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Journal
Nature Communications
Volume 9, Issue 1, Pages -
Publisher
Springer Nature America, Inc
Online
2018-07-27
DOI
10.1038/s41467-018-05513-w
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- Sambamba: fast processing of NGS alignment formats
- (2015) Artem Tarasov et al. BIOINFORMATICS
- Characterization and identification of hidden rare variants in the human genome
- (2015) Alberto Magi et al. BMC GENOMICS
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Assembly and diploid architecture of an individual human genome via single-molecule technologies
- (2015) Matthew Pendleton et al. NATURE METHODS
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- (2015) Robert Hubley et al. NUCLEIC ACIDS RESEARCH
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- (2015) Elisabeth M. van Leeuwen et al. Nature Communications
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- (2010) R. J. Britten PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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