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。HTSlib: C library for reading/writing high-throughput sequencing data
James K. Bonfield et al.
GIGASCIENCE (2021)
Twelve years of SAMtools and BCFtools
Petr Danecek et al.
GIGASCIENCE (2021)
Comparison of Read Mapping and Variant Calling Tools for the Analysis of Plant NGS Data
Hanna Marie Schilbert et al.
PLANTS-BASEL (2020)
Crumble: reference free lossy compression of sequence quality values
James K. Bonfield et al.
BIOINFORMATICS (2019)
Systematic comparative analysis of single-nucleotide variant detection methods from single-cell RNA sequencing data
Fenglin Liu et al.
GENOME BIOLOGY (2019)
Bioconda: sustainable and comprehensive software distribution for the life sciences
Bjoern Gruening et al.
NATURE METHODS (2018)
BCFtools/csq: haplotype-aware variant consequences
Petr Danecek et al.
BIOINFORMATICS (2017)
BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data
Vagheesh Narasimhan et al.
BIOINFORMATICS (2016)
A Method for Checking Genomic Integrity in Cultured Cell Lines from SNP Genotyping Data
Petr Danecek et al.
PLOS ONE (2016)
The Ensembl Variant Effect Predictor
William McLaren et al.
GENOME BIOLOGY (2016)
Sambamba: fast processing of NGS alignment formats
Artem Tarasov et al.
BIOINFORMATICS (2015)
A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
biobambam: tools for read pair collation based algorithms on BAM files
German Tischler et al.
SOURCE CODE FOR BIOLOGY AND MEDICINE (2014)
Improving SNP discovery by base alignment quality
Heng Li
BIOINFORMATICS (2011)
The variant call format and VCFtools
Petr Danecek et al.
BIOINFORMATICS (2011)
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
Heng Li
BIOINFORMATICS (2011)
Efficient storage of high throughput DNA sequencing data using reference-based compression
Markus Hsi-Yang Fritz et al.
GENOME RESEARCH (2011)
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo et al.
NATURE GENETICS (2011)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
Valgrind: A framework for heavyweight dynamic binary instrumentation
Nicholas Nethercote et al.
ACM SIGPLAN NOTICES (2007)