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Title
Genome-wide profiling of heritable and de novo STR variations
Authors
Keywords
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Journal
NATURE METHODS
Volume 14, Issue 6, Pages 590-592
Publisher
Springer Nature
Online
2017-04-24
DOI
10.1038/nmeth.4267
References
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Related references
Note: Only part of the references are listed.- Population-Scale Sequencing Data Enable Precise Estimates of Y-STR Mutation Rates
- (2016) Thomas Willems et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree
- (2016) Michael A. Eberle et al. GENOME RESEARCH
- The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
- (2016) Swapan Mallick et al. NATURE
- Accurate typing of short tandem repeats from genome-wide sequencing data and its applications
- (2015) Arkarachai Fungtammasan et al. GENOME RESEARCH
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Genome-wide patterns and properties of de novo mutations in humans
- (2015) Laurent C Francioli et al. NATURE GENETICS
- Abundant contribution of short tandem repeats to gene expression variation in humans
- (2015) Melissa Gymrek et al. NATURE GENETICS
- The landscape of human STR variation
- (2014) Thomas Willems et al. GENOME RESEARCH
- Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
- (2014) Justin M Zook et al. NATURE BIOTECHNOLOGY
- Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications
- (2014) Andy Rimmer et al. NATURE GENETICS
- Comprehensive variation discovery in single human genomes
- (2014) Neil I Weisenfeld et al. NATURE GENETICS
- lobSTR: A short tandem repeat profiler for personal genomes
- (2012) Melissa Gymrek et al. GENOME RESEARCH
- VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
- (2012) D. C. Koboldt et al. GENOME RESEARCH
- Rate of de novo mutations and the importance of father’s age to disease risk
- (2012) Augustine Kong et al. NATURE
- Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles
- (2012) Gareth Highnam et al. NUCLEIC ACIDS RESEARCH
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Dindel: Accurate indel calls from short-read data
- (2010) C. A. Albers et al. GENOME RESEARCH
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
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