相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Minimap2: pairwise alignment for nucleotide sequences
Heng Li
BIOINFORMATICS (2018)
A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree
Michael A. Eberle et al.
GENOME RESEARCH (2017)
Discovery and genotyping of structural variation from long-read haploid genome sequence data
John Huddleston et al.
GENOME RESEARCH (2017)
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
Valerie A. Schneider et al.
GENOME RESEARCH (2017)
De novo assembly and phasing of a Korean human genome
Jeong-Sun Seo et al.
NATURE (2016)
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
Swapan Mallick et al.
NATURE (2016)
Phased diploid genome assembly with single-molecule real-time sequencing
Chen-Shan Chin et al.
NATURE METHODS (2016)
A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
Toward better understanding of artifacts in variant calling from high-coverage samples
Heng Li
BIOINFORMATICS (2014)
Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
Justin M. Zook et al.
NATURE BIOTECHNOLOGY (2014)
Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications
Andy Rimmer et al.
NATURE GENETICS (2014)
Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data
Chen-Shan Chin et al.
NATURE METHODS (2013)
Fast gapped-read alignment with Bowtie 2
Ben Langmead et al.
NATURE METHODS (2012)
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
Heng Li
BIOINFORMATICS (2011)
Integrative genomics viewer
James T. Robinson et al.
NATURE BIOTECHNOLOGY (2011)
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo et al.
NATURE GENETICS (2011)
A fast and symmetric DUST implementation to mask low-complexity DNA sequences
Aleksandr Morgulis et al.
JOURNAL OF COMPUTATIONAL BIOLOGY (2006)