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Title
Rare variant detection using family-based sequencing analysis
Authors
Keywords
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Journal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 110, Issue 10, Pages 3985-3990
Publisher
Proceedings of the National Academy of Sciences
Online
2013-02-21
DOI
10.1073/pnas.1222158110
References
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Related references
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- Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing
- (2010) Wenyi Wang et al. NUCLEIC ACIDS RESEARCH
- Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
- (2010) J. C. Roach et al. SCIENCE
- SOAP2: an improved ultrafast tool for short read alignment
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- Exome sequencing identifies the cause of a mendelian disorder
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- Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes
- (2009) Curt Scharfe et al. PLoS Computational Biology
- Mapping short DNA sequencing reads and calling variants using mapping quality scores
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