Literature DB >> 33989384

Sparse Allele Vectors and the Savvy Software Suite.

Jonathon LeFaive1, Albert V Smith1, Hyun Min Kang1, Gonçalo Abecasis1.   

Abstract

SUMMARY: The sparse allele vectors (SAV) file format is an efficient storage format for large-scale DNA variation data and is designed for high throughput association analysis by leveraging techniques for fast deserialization of data into computer memory. A command line interface has been developed to complement the storage format and supports basic features like importing, exporting and subsetting. Additionally, a C ++ programming API is available allowing for easy integration into analysis software.
AVAILABILITY AND IMPLEMENTATION: https://github.com/statgen/savvy. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
© The Author(s) (2021). Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Entities:  

Year:  2021        PMID: 33989384      PMCID: PMC9502232          DOI: 10.1093/bioinformatics/btab378

Source DB:  PubMed          Journal:  Bioinformatics        ISSN: 1367-4803            Impact factor:   6.931


  11 in total

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Authors:  Aaron McKenna; Matthew Hanna; Eric Banks; Andrey Sivachenko; Kristian Cibulskis; Andrew Kernytsky; Kiran Garimella; David Altshuler; Stacey Gabriel; Mark Daly; Mark A DePristo
Journal:  Genome Res       Date:  2010-07-19       Impact factor: 9.043

2.  Tabix: fast retrieval of sequence features from generic TAB-delimited files.

Authors:  Heng Li
Journal:  Bioinformatics       Date:  2011-01-05       Impact factor: 6.937

3.  BGT: efficient and flexible genotype query across many samples.

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Journal:  Bioinformatics       Date:  2015-10-24       Impact factor: 6.937

4.  Efficient genotype compression and analysis of large genetic-variation data sets.

Authors:  Ryan M Layer; Neil Kindlon; Konrad J Karczewski; Aaron R Quinlan
Journal:  Nat Methods       Date:  2015-11-09       Impact factor: 28.547

5.  SeqArray-a storage-efficient high-performance data format for WGS variant calls.

Authors:  Xiuwen Zheng; Stephanie M Gogarten; Michael Lawrence; Adrienne Stilp; Matthew P Conomos; Bruce S Weir; Cathy Laurie; David Levine
Journal:  Bioinformatics       Date:  2017-08-01       Impact factor: 6.937

6.  Second-generation PLINK: rising to the challenge of larger and richer datasets.

Authors:  Christopher C Chang; Carson C Chow; Laurent Cam Tellier; Shashaank Vattikuti; Shaun M Purcell; James J Lee
Journal:  Gigascience       Date:  2015-02-25       Impact factor: 6.524

7.  Efficient haplotype matching and storage using the positional Burrows-Wheeler transform (PBWT).

Authors:  Richard Durbin
Journal:  Bioinformatics       Date:  2014-01-09       Impact factor: 6.937

8.  Sparse Project VCF: efficient encoding of population genotype matrices.

Authors:  Michael F Lin; Xiaodong Bai; William J Salerno; Jeffrey G Reid
Journal:  Bioinformatics       Date:  2021-04-01       Impact factor: 6.937

9.  The UK Biobank resource with deep phenotyping and genomic data.

Authors:  Clare Bycroft; Colin Freeman; Desislava Petkova; Gavin Band; Lloyd T Elliott; Kevin Sharp; Allan Motyer; Damjan Vukcevic; Olivier Delaneau; Jared O'Connell; Adrian Cortes; Samantha Welsh; Alan Young; Mark Effingham; Gil McVean; Stephen Leslie; Naomi Allen; Peter Donnelly; Jonathan Marchini
Journal:  Nature       Date:  2018-10-10       Impact factor: 49.962

10.  Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.

Authors:  Daniel Taliun; Daniel N Harris; Michael D Kessler; Jedidiah Carlson; Zachary A Szpiech; Raul Torres; Sarah A Gagliano Taliun; André Corvelo; Stephanie M Gogarten; Hyun Min Kang; Achilleas N Pitsillides; Jonathon LeFaive; Seung-Been Lee; Xiaowen Tian; Brian L Browning; Sayantan Das; Anne-Katrin Emde; Wayne E Clarke; Douglas P Loesch; Amol C Shetty; Thomas W Blackwell; Albert V Smith; Quenna Wong; Xiaoming Liu; Matthew P Conomos; Dean M Bobo; François Aguet; Christine Albert; Alvaro Alonso; Kristin G Ardlie; Dan E Arking; Stella Aslibekyan; Paul L Auer; John Barnard; R Graham Barr; Lucas Barwick; Lewis C Becker; Rebecca L Beer; Emelia J Benjamin; Lawrence F Bielak; John Blangero; Michael Boehnke; Donald W Bowden; Jennifer A Brody; Esteban G Burchard; Brian E Cade; James F Casella; Brandon Chalazan; Daniel I Chasman; Yii-Der Ida Chen; Michael H Cho; Seung Hoan Choi; Mina K Chung; Clary B Clish; Adolfo Correa; Joanne E Curran; Brian Custer; Dawood Darbar; Michelle Daya; Mariza de Andrade; Dawn L DeMeo; Susan K Dutcher; Patrick T Ellinor; Leslie S Emery; Celeste Eng; Diane Fatkin; Tasha Fingerlin; Lukas Forer; Myriam Fornage; Nora Franceschini; Christian Fuchsberger; Stephanie M Fullerton; Soren Germer; Mark T Gladwin; Daniel J Gottlieb; Xiuqing Guo; Michael E Hall; Jiang He; Nancy L Heard-Costa; Susan R Heckbert; Marguerite R Irvin; Jill M Johnsen; Andrew D Johnson; Robert Kaplan; Sharon L R Kardia; Tanika Kelly; Shannon Kelly; Eimear E Kenny; Douglas P Kiel; Robert Klemmer; Barbara A Konkle; Charles Kooperberg; Anna Köttgen; Leslie A Lange; Jessica Lasky-Su; Daniel Levy; Xihong Lin; Keng-Han Lin; Chunyu Liu; Ruth J F Loos; Lori Garman; Robert Gerszten; Steven A Lubitz; Kathryn L Lunetta; Angel C Y Mak; Ani Manichaikul; Alisa K Manning; Rasika A Mathias; David D McManus; Stephen T McGarvey; James B Meigs; Deborah A Meyers; Julie L Mikulla; Mollie A Minear; Braxton D Mitchell; Sanghamitra Mohanty; May E Montasser; Courtney Montgomery; Alanna C Morrison; Joanne M Murabito; Andrea Natale; Pradeep Natarajan; Sarah C Nelson; Kari E North; Jeffrey R O'Connell; Nicholette D Palmer; Nathan Pankratz; Gina M Peloso; Patricia A Peyser; Jacob Pleiness; Wendy S Post; Bruce M Psaty; D C Rao; Susan Redline; Alexander P Reiner; Dan Roden; Jerome I Rotter; Ingo Ruczinski; Chloé Sarnowski; Sebastian Schoenherr; David A Schwartz; Jeong-Sun Seo; Sudha Seshadri; Vivien A Sheehan; Wayne H Sheu; M Benjamin Shoemaker; Nicholas L Smith; Jennifer A Smith; Nona Sotoodehnia; Adrienne M Stilp; Weihong Tang; Kent D Taylor; Marilyn Telen; Timothy A Thornton; Russell P Tracy; David J Van Den Berg; Ramachandran S Vasan; Karine A Viaud-Martinez; Scott Vrieze; Daniel E Weeks; Bruce S Weir; Scott T Weiss; Lu-Chen Weng; Cristen J Willer; Yingze Zhang; Xutong Zhao; Donna K Arnett; Allison E Ashley-Koch; Kathleen C Barnes; Eric Boerwinkle; Stacey Gabriel; Richard Gibbs; Kenneth M Rice; Stephen S Rich; Edwin K Silverman; Pankaj Qasba; Weiniu Gan; George J Papanicolaou; Deborah A Nickerson; Sharon R Browning; Michael C Zody; Sebastian Zöllner; James G Wilson; L Adrienne Cupples; Cathy C Laurie; Cashell E Jaquish; Ryan D Hernandez; Timothy D O'Connor; Gonçalo R Abecasis
Journal:  Nature       Date:  2021-02-10       Impact factor: 69.504

View more
  1 in total

1.  XSI - A genotype compression tool for compressive genomics in large biobanks.

Authors:  Rick Wertenbroek; Simone Rubinacci; Ioannis Xenarios; Yann Thoma; Olivier Delaneau
Journal:  Bioinformatics       Date:  2022-06-24       Impact factor: 6.931

  1 in total

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