Literature DB >> 24526712

Supercomputing for the parallelization of whole genome analysis.

Megan J Puckelwartz1, Lorenzo L Pesce1, Viswateja Nelakuditi1, Lisa Dellefave-Castillo1, Jessica R Golbus1, Sharlene M Day1, Thomas P Cappola1, Gerald W Dorn1, Ian T Foster1, Elizabeth M McNally2.   

Abstract

MOTIVATION: The declining cost of generating DNA sequence is promoting an increase in whole genome sequencing, especially as applied to the human genome. Whole genome analysis requires the alignment and comparison of raw sequence data, and results in a computational bottleneck because of limited ability to analyze multiple genomes simultaneously.
RESULTS: We now adapted a Cray XE6 supercomputer to achieve the parallelization required for concurrent multiple genome analysis. This approach not only markedly speeds computational time but also results in increased usable sequence per genome. Relying on publically available software, the Cray XE6 has the capacity to align and call variants on 240 whole genomes in ∼50 h. Multisample variant calling is also accelerated.
AVAILABILITY AND IMPLEMENTATION: The MegaSeq workflow is designed to harness the size and memory of the Cray XE6, housed at Argonne National Laboratory, for whole genome analysis in a platform designed to better match current and emerging sequencing volume.
© The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

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Year:  2014        PMID: 24526712      PMCID: PMC4029034          DOI: 10.1093/bioinformatics/btu071

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


  12 in total

1.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.

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.  A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3.

Authors:  Pablo Cingolani; Adrian Platts; Le Lily Wang; Melissa Coon; Tung Nguyen; Luan Wang; Susan J Land; Xiangyi Lu; Douglas M Ruden
Journal:  Fly (Austin)       Date:  2012 Apr-Jun       Impact factor: 2.160

3.  Personal genome sequencing: current approaches and challenges.

Authors:  Michael Snyder; Jiang Du; Mark Gerstein
Journal:  Genes Dev       Date:  2010-03-01       Impact factor: 11.361

Review 4.  Sequencing technologies - the next generation.

Authors:  Michael L Metzker
Journal:  Nat Rev Genet       Date:  2009-12-08       Impact factor: 53.242

Review 5.  What can exome sequencing do for you?

Authors:  Jacek Majewski; Jeremy Schwartzentruber; Emilie Lalonde; Alexandre Montpetit; Nada Jabado
Journal:  J Med Genet       Date:  2011-07-05       Impact factor: 6.318

6.  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

7.  Rainbow: a tool for large-scale whole-genome sequencing data analysis using cloud computing.

Authors:  Shanrong Zhao; Kurt Prenger; Lance Smith; Thomas Messina; Hongtao Fan; Edward Jaeger; Susan Stephens
Journal:  BMC Genomics       Date:  2013-06-27       Impact factor: 3.969

8.  A framework for variation discovery and genotyping using next-generation DNA sequencing data.

Authors:  Mark A DePristo; Eric Banks; Ryan Poplin; Kiran V Garimella; Jared R Maguire; Christopher Hartl; Anthony A Philippakis; Guillermo del Angel; Manuel A Rivas; Matt Hanna; Aaron McKenna; Tim J Fennell; Andrew M Kernytsky; Andrey Y Sivachenko; Kristian Cibulskis; Stacey B Gabriel; David Altshuler; Mark J Daly
Journal:  Nat Genet       Date:  2011-04-10       Impact factor: 38.330

9.  Fast and accurate short read alignment with Burrows-Wheeler transform.

Authors:  Heng Li; Richard Durbin
Journal:  Bioinformatics       Date:  2009-05-18       Impact factor: 6.937

10.  An integrated encyclopedia of DNA elements in the human genome.

Authors: 
Journal:  Nature       Date:  2012-09-06       Impact factor: 49.962

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  16 in total

1.  Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy.

Authors:  David Y Barefield; Megan J Puckelwartz; Ellis Y Kim; Lisa D Wilsbacher; Andy H Vo; Emily A Waters; Judy U Earley; Michele Hadhazy; Lisa Dellefave-Castillo; Lorenzo L Pesce; Elizabeth M McNally
Journal:  Circulation       Date:  2017-08-04       Impact factor: 29.690

2.  Dusp6 is a genetic modifier of growth through enhanced ERK activity.

Authors:  Andy H Vo; Kayleigh A Swaggart; Anna Woo; Quan Q Gao; Alexis R Demonbreun; Katherine S Fallon; Mattia Quattrocelli; Michele Hadhazy; Patrick G T Page; Zugen Chen; Ascia Eskin; Kevin Squire; Stanley F Nelson; Elizabeth M McNally
Journal:  Hum Mol Genet       Date:  2019-01-15       Impact factor: 6.150

3.  Merging Electronic Health Record Data and Genomics for Cardiovascular Research: A Science Advisory From the American Heart Association.

Authors:  Jennifer L Hall; John J Ryan; Bruce E Bray; Candice Brown; David Lanfear; L Kristin Newby; Mary V Relling; Neil J Risch; Dan M Roden; Stanley Y Shaw; James E Tcheng; Jessica Tenenbaum; Thomas N Wang; William S Weintraub
Journal:  Circ Cardiovasc Genet       Date:  2016-03-14

4.  QUARTIC: QUick pArallel algoRithms for high-Throughput sequencIng data proCessing.

Authors:  Frédéric Jarlier; Nicolas Joly; Nicolas Fedy; Thomas Magalhaes; Leonor Sirotti; Paul Paganiban; Firmin Martin; Michael McManus; Philippe Hupé
Journal:  F1000Res       Date:  2020-04-06

5.  Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3Δ25bpIntronic Deletion in South Asian Descendants.

Authors:  Shiv Kumar Viswanathan; Megan J Puckelwartz; Ashish Mehta; Chrishan J A Ramachandra; Aravindakshan Jagadeesan; Regina Fritsche-Danielson; Ratan V Bhat; Philip Wong; Sangeetha Kandoi; Jennifer A Schwanekamp; Gina Kuffel; Lorenzo L Pesce; Michael J Zilliox; U Nalla B Durai; Rama Shanker Verma; Robert E Molokie; Domodhar P Suresh; Philip R Khoury; Annie Thomas; Thriveni Sanagala; Hak Chiaw Tang; Richard C Becker; Ralph Knöll; Winston Shim; Elizabeth M McNally; Sakthivel Sadayappan
Journal:  JAMA Cardiol       Date:  2018-06-01       Impact factor: 14.676

6.  Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics.

Authors:  Benjamin J Kelly; James R Fitch; Yangqiu Hu; Donald J Corsmeier; Huachun Zhong; Amy N Wetzel; Russell D Nordquist; David L Newsom; Peter White
Journal:  Genome Biol       Date:  2015-01-20       Impact factor: 13.583

7.  Halvade: scalable sequence analysis with MapReduce.

Authors:  Dries Decap; Joke Reumers; Charlotte Herzeel; Pascal Costanza; Jan Fostier
Journal:  Bioinformatics       Date:  2015-03-26       Impact factor: 6.937

8.  Group-based variant calling leveraging next-generation supercomputing for large-scale whole-genome sequencing studies.

Authors:  Kristopher A Standish; Tristan M Carland; Glenn K Lockwood; Wayne Pfeiffer; Mahidhar Tatineni; C Chris Huang; Sarah Lamberth; Yauheniya Cherkas; Carrie Brodmerkel; Ed Jaeger; Lance Smith; Gunaretnam Rajagopal; Mark E Curran; Nicholas J Schork
Journal:  BMC Bioinformatics       Date:  2015-09-22       Impact factor: 3.169

9.  Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflow.

Authors:  Amit Kawalia; Susanne Motameny; Stephan Wonczak; Holger Thiele; Lech Nieroda; Kamel Jabbari; Stefan Borowski; Vishal Sinha; Wilfried Gunia; Ulrich Lang; Viktor Achter; Peter Nürnberg
Journal:  PLoS One       Date:  2015-05-05       Impact factor: 3.240

10.  Evolvable Smartphone-Based Platforms for Point-of-Care In-Vitro Diagnostics Applications.

Authors:  François Patou; Fatima AlZahra'a Alatraktchi; Claus Kjægaard; Maria Dimaki; Jan Madsen; Winnie E Svendsen
Journal:  Diagnostics (Basel)       Date:  2016-09-03
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