Literature DB >> 29718142

hts-nim: scripting high-performance genomic analyses.

Brent S Pedersen1, Aaron R Quinlan1.   

Abstract

Motivation: Extracting biological insight from genomic data inevitably requires custom software. In many cases, this is accomplished with scripting languages, owing to their accessibility and brevity. Unfortunately, the ease of scripting languages typically comes at a substantial performance cost that is especially acute with the scale of modern genomics datasets.
Results: We present hts-nim, a high-performance library written in the Nim programming language that provides a simple, scripting-like syntax without sacrificing performance. Availability and implementation: hts-nim is available at https://github.com/brentp/hts-nim and the example tools are at https://github.com/brentp/hts-nim-tools both under the MIT license.

Mesh:

Year:  2018        PMID: 29718142      PMCID: PMC7190653          DOI: 10.1093/bioinformatics/bty358

Source DB:  PubMed          Journal:  Bioinformatics        ISSN: 1367-4803            Impact factor:   6.937


  5 in total

1.  The Sequence Alignment/Map format and SAMtools.

Authors:  Heng Li; Bob Handsaker; Alec Wysoker; Tim Fennell; Jue Ruan; Nils Homer; Gabor Marth; Goncalo Abecasis; Richard Durbin
Journal:  Bioinformatics       Date:  2009-06-08       Impact factor: 6.937

2.  BEDTools: a flexible suite of utilities for comparing genomic features.

Authors:  Aaron R Quinlan; Ira M Hall
Journal:  Bioinformatics       Date:  2010-01-28       Impact factor: 6.937

3.  The variant call format and VCFtools.

Authors:  Petr Danecek; Adam Auton; Goncalo Abecasis; Cornelis A Albers; Eric Banks; Mark A DePristo; Robert E Handsaker; Gerton Lunter; Gabor T Marth; Stephen T Sherry; Gilean McVean; Richard Durbin
Journal:  Bioinformatics       Date:  2011-06-07       Impact factor: 6.937

4.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

5.  Mosdepth: quick coverage calculation for genomes and exomes.

Authors:  Brent S Pedersen; Aaron R Quinlan
Journal:  Bioinformatics       Date:  2018-03-01       Impact factor: 6.937

  5 in total
  9 in total

1.  A spectrum of free software tools for processing the VCF variant call format: vcflib, bio-vcf, cyvcf2, hts-nim and slivar.

Authors:  Erik Garrison; Zev N Kronenberg; Eric T Dawson; Brent S Pedersen; Pjotr Prins
Journal:  PLoS Comput Biol       Date:  2022-05-31       Impact factor: 4.779

2.  TextFormats: Simplifying the definition and parsing of text formats in bioinformatics.

Authors:  Giorgio Gonnella
Journal:  PLoS One       Date:  2022-05-26       Impact factor: 3.752

3.  Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketches.

Authors:  Brent S Pedersen; Preetida J Bhetariya; Joe Brown; Stephanie N Kravitz; Gabor Marth; Randy L Jensen; Mary P Bronner; Hunter R Underhill; Aaron R Quinlan
Journal:  Genome Med       Date:  2020-07-14       Impact factor: 11.117

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

Authors:  Brent S Pedersen; Aaron R Quinlan
Journal:  Gigascience       Date:  2019-04-01       Impact factor: 6.524

5.  GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data.

Authors:  Edoardo Giacopuzzi; Niko Popitsch; Jenny C Taylor
Journal:  Nucleic Acids Res       Date:  2022-03-21       Impact factor: 16.971

6.  BamToCov, an efficient toolkit for sequence coverage calculations.

Authors:  Giovanni Birolo; Andrea Telatin
Journal:  Bioinformatics       Date:  2022-02-23       Impact factor: 6.931

7.  Qiime Artifact eXtractor (qax): A Fast and Versatile Tool to Interact with Qiime2 Archives.

Authors:  Andrea Telatin
Journal:  BioTech (Basel)       Date:  2021-03-03

8.  Effective variant filtering and expected candidate variant yield in studies of rare human disease.

Authors:  Brent S Pedersen; Joe M Brown; Harriet Dashnow; Amelia D Wallace; Matt Velinder; Martin Tristani-Firouzi; Joshua D Schiffman; Tatiana Tvrdik; Rong Mao; D Hunter Best; Pinar Bayrak-Toydemir; Aaron R Quinlan
Journal:  NPJ Genom Med       Date:  2021-07-15       Impact factor: 8.617

9.  Genome-wide capture sequencing to detect hepatitis C virus at the end of antiviral therapy.

Authors:  Peng Peng; Yanjuan Xu; Michael W Fried; Adrian M Di Bisceglie; Xiaofeng Fan
Journal:  BMC Infect Dis       Date:  2020-08-26       Impact factor: 3.090

  9 in total

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