An analytical framework for optimizing variant discovery from personal genomes
Published 2015 View Full Article
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Title
An analytical framework for optimizing variant discovery from personal genomes
Authors
Keywords
-
Journal
Nature Communications
Volume 6, Issue 1, Pages -
Publisher
Springer Nature
Online
2015-02-25
DOI
10.1038/ncomms7275
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Related references
Note: Only part of the references are listed.- SM a SH: a benchmarking toolkit for human genome variant calling
- (2014) Ameet Talwalkar et al. BIOINFORMATICS
- Toward better understanding of artifacts in variant calling from high-coverage samples
- (2014) Heng Li BIOINFORMATICS
- Variant detection sensitivity and biases in whole genome and exome sequencing
- (2014) Alison M Meynert et al. BMC BIOINFORMATICS
- Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
- (2014) Justin M Zook et al. NATURE BIOTECHNOLOGY
- Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms
- (2013) Come Raczy et al. BIOINFORMATICS
- Disease-targeted sequencing: a cornerstone in the clinic
- (2013) Heidi L. Rehm NATURE REVIEWS GENETICS
- Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing
- (2013) Jason O'Rawe et al. Genome Medicine
- After the gold rush
- (2013) Neil Hall GENOME BIOLOGY
- SEQanswers: an open access community for collaboratively decoding genomes
- (2012) Jing-Woei Li et al. BIOINFORMATICS
- Tools for mapping high-throughput sequencing data
- (2012) Nuno A. Fonseca et al. BIOINFORMATICS
- Performance comparison of benchtop high-throughput sequencing platforms
- (2012) Nicholas J Loman et al. NATURE BIOTECHNOLOGY
- Fast gapped-read alignment with Bowtie 2
- (2012) Ben Langmead et al. NATURE METHODS
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
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