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BEDTools: The Swiss‐Army Tool for Genome Feature Analysis

Current Protocols in Bioinformatics, 2014-09, Vol.47 (1), p.11.12.1-11.12.34

Quinlan, Aaron R.

2014

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Mosdepth: quick coverage calculation for genomes and exomes

Bioinformatics, 2018-03, Vol.34 (5), p.867-868

2018

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BEDTools: a flexible suite of utilities for comparing genomic features

Bioinformatics, 2010-03, Vol.26 (6), p.841-842

2010

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Poretools: a toolkit for analyzing nanopore sequence data

Bioinformatics, 2014-12, Vol.30 (23), p.3399-3401

2014

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GEMINI: integrative exploration of genetic variation and genome annotations

PLoS computational biology, 2013-07, Vol.9 (7), p.e1003153-e1003153

2013

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LUMPY: a probabilistic framework for structural variant discovery

Genome biology, 2014-06, Vol.15 (6), p.R84-R84

2014

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A map of constrained coding regions in the human genome

Nature genetics, 2019-01, Vol.51 (1), p.88-95

2019

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Pybedtools: a flexible Python library for manipulating genomic datasets and annotations

Bioinformatics, 2011-12, Vol.27 (24), p.3423-3424

2011

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SpeedSeq: ultra-fast personal genome analysis and interpretation

Nature methods, 2015-10, Vol.12 (10), p.966-968

2015

Volltextzugriff (PDF)

Copy number variation detection and genotyping from exome sequence data

Genome research, 2012-08, Vol.22 (8), p.1525-1532

2012

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GIGGLE: a search engine for large-scale integrated genome analysis

Nature methods, 2018-02, Vol.15 (2), p.123-126

2018

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BamTools: a C++ API and toolkit for analyzing and managing BAM files

Bioinformatics (Oxford, England), 2011-06, Vol.27 (12), p.1691-1695

2011

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Samplot: a platform for structural variant visual validation and automated filtering

Genome Biology, 2021-05, Vol.22 (1), p.161-13, Article 161

2021

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Annotation of structural variants with reported allele frequencies and related metrics from multiple datasets using SVAFotate

BMC bioinformatics, 2022-11, Vol.23 (1), p.490-490, Article 490

2022

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Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation

eLife, 2019-09, Vol.8

2019

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Whole-genome sequencing analysis in families with recurrent pregnancy loss: A pilot study

PloS one, 2023-02, Vol.18 (2), p.e0281934-e0281934

2023

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Duphold: scalable, depth-based annotation and curation of high-confidence structural variant calls

Gigascience, 2019-04, Vol.8 (4)

2019

Volltextzugriff (PDF)

Characterizing complex structural variation in germline and somatic genomes

Trends in genetics, 2012-01, Vol.28 (1), p.43-53

2012

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Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies

BMC bioinformatics, 2022-11, Vol.23 (1), p.1-32, Article 482

2022

Volltextzugriff (PDF)

Epistasis between mutator alleles contributes to germline mutation spectrum variability in laboratory mice

eLife, 2024-02, Vol.12

2024

Volltextzugriff (PDF)

Random allelic expression in the adult human body

Cell reports (Cambridge), 2023-01, Vol.42 (1), p.111945-111945, Article 111945

2023

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Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms

Genome research, 2013-05, Vol.23 (5), p.762-776

2013

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Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome

Genome research, 2010-05, Vol.20 (5), p.623-635

2010

Volltextzugriff (PDF)

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

Genome Biology, 2022-12, Vol.23 (1), p.257-20, Article 257

2022

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CaBagE: A Cas9-based Background Elimination strategy for targeted, long-read DNA sequencing

PloS one, 2021-04, Vol.16 (4), p.e0241253

2021

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BEDTools: The Swiss‐Army Tool for Genome Feature Analysis

Mosdepth: quick coverage calculation for genomes and exomes

BEDTools: a flexible suite of utilities for comparing genomic features

Poretools: a toolkit for analyzing nanopore sequence data

GEMINI: integrative exploration of genetic variation and genome annotations

LUMPY: a probabilistic framework for structural variant discovery

A map of constrained coding regions in the human genome

Pybedtools: a flexible Python library for manipulating genomic datasets and annotations

SpeedSeq: ultra-fast personal genome analysis and interpretation

Copy number variation detection and genotyping from exome sequence data

GIGGLE: a search engine for large-scale integrated genome analysis

BamTools: a C++ API and toolkit for analyzing and managing BAM files

Samplot: a platform for structural variant visual validation and automated filtering

Annotation of structural variants with reported allele frequencies and related metrics from multiple datasets using SVAFotate

Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation

Whole-genome sequencing analysis in families with recurrent pregnancy loss: A pilot study

Duphold: scalable, depth-based annotation and curation of high-confidence structural variant calls

Characterizing complex structural variation in germline and somatic genomes

Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies

Epistasis between mutator alleles contributes to germline mutation spectrum variability in laboratory mice

Random allelic expression in the adult human body

Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms

Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

CaBagE: A Cas9-based Background Elimination strategy for targeted, long-read DNA sequencing

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