Evaluating Variant Calling Tools for Non-Matched Next-Generation Sequencing Data
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Title
Evaluating Variant Calling Tools for Non-Matched Next-Generation Sequencing Data
Authors
Keywords
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Journal
Scientific Reports
Volume 7, Issue 1, Pages -
Publisher
Springer Nature
Online
2017-02-24
DOI
10.1038/srep43169
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Note: Only part of the references are listed.- From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing
- (2016) Steve Laurie et al. HUMAN MUTATION
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Unified representation of genetic variants
- (2015) Adrian Tan et al. BIOINFORMATICS
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- (2015) L. Malcovati et al. BLOOD
- Telomerase activation by genomic rearrangements in high-risk neuroblastoma
- (2015) Martin Peifer et al. NATURE
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Combining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection
- (2015) Adam D Ewing et al. NATURE METHODS
- ClinVar: public archive of interpretations of clinically relevant variants
- (2015) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing
- (2015) Tyler S. Alioto et al. Nature Communications
- Comparison of ultra-deep versus Sanger sequencing detection of minority mutations on the HIV-1 drug resistance interpretations after virological failure
- (2014) Sofiane Mohamed et al. AIDS
- Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes
- (2014) Zhen Yeo et al. BMC GENOMICS
- Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications
- (2014) Andy Rimmer et al. NATURE GENETICS
- COSMIC: exploring the world's knowledge of somatic mutations in human cancer
- (2014) Simon A. Forbes et al. NUCLEIC ACIDS RESEARCH
- Next-generation sequencing in the clinic
- (2013) Jason Y Park et al. NATURE BIOTECHNOLOGY
- Shining a Light on Dark Sequencing: Characterising Errors in Ion Torrent PGM Data
- (2013) Lauren M. Bragg et al. PLoS Computational Biology
- A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
- (2012) Pablo Cingolani et al. FLY
- VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
- (2012) D. C. Koboldt et al. GENOME RESEARCH
- Performance comparison of benchtop high-throughput sequencing platforms
- (2012) Nicholas J Loman et al. NATURE BIOTECHNOLOGY
- LoFreq: a sequence-quality aware, ultra-sensitive variant caller for uncovering cell-population heterogeneity from high-throughput sequencing datasets
- (2012) Andreas Wilm et al. NUCLEIC ACIDS RESEARCH
- Accuracy and quality assessment of 454 GS-FLX Titanium pyrosequencing
- (2011) André Gilles et al. BMC GENOMICS
- An integrated semiconductor device enabling non-optical genome sequencing
- (2011) Jonathan M. Rothberg et al. NATURE
- Integrative genomics viewer
- (2011) James T Robinson et al. NATURE BIOTECHNOLOGY
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- SNVer: a statistical tool for variant calling in analysis of pooled or individual next-generation sequencing data
- (2011) Zhi Wei et al. NUCLEIC ACIDS RESEARCH
- 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
- Fast Mapping of Short Sequences with Mismatches, Insertions and Deletions Using Index Structures
- (2009) Steve Hoffmann et al. PLoS Computational Biology
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