Literature DB >> 23736529

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms.

Come Raczy1, Roman Petrovski, Christopher T Saunders, Ilya Chorny, Semyon Kruglyak, Elliott H Margulies, Han-Yu Chuang, Morten Källberg, Swathi A Kumar, Arnold Liao, Kristina M Little, Michael P Strömberg, Stephen W Tanner.   

Abstract

SUMMARY: An ultrafast DNA sequence aligner (Isaac Genome Alignment Software) that takes advantage of high-memory hardware (>48 GB) and variant caller (Isaac Variant Caller) have been developed. We demonstrate that our combined pipeline (Isaac) is four to five times faster than BWA + GATK on equivalent hardware, with comparable accuracy as measured by trio conflict rates and sensitivity. We further show that Isaac is effective in the detection of disease-causing variants and can easily/economically be run on commodity hardware. AVAILABILITY: Isaac has an open source license and can be obtained at https://github.com/sequencing.

Mesh:

Year:  2013        PMID: 23736529     DOI: 10.1093/bioinformatics/btt314

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


  147 in total

1.  The DNA of a nation.

Authors:  Vivien Marx
Journal:  Nature       Date:  2015-08-27       Impact factor: 49.962

2.  FermiKit: assembly-based variant calling for Illumina resequencing data.

Authors:  Heng Li
Journal:  Bioinformatics       Date:  2015-07-27       Impact factor: 6.937

3.  16GT: a fast and sensitive variant caller using a 16-genotype probabilistic model.

Authors:  Ruibang Luo; Michael C Schatz; Steven L Salzberg
Journal:  Gigascience       Date:  2017-07-01       Impact factor: 6.524

4.  Digenome-seq: genome-wide profiling of CRISPR-Cas9 off-target effects in human cells.

Authors:  Daesik Kim; Sangsu Bae; Jeongbin Park; Eunji Kim; Seokjoong Kim; Hye Ryeong Yu; Jinha Hwang; Jong-Il Kim; Jin-Soo Kim
Journal:  Nat Methods       Date:  2015-02-09       Impact factor: 28.547

5.  Correction of a pathogenic gene mutation in human embryos.

Authors:  Hong Ma; Nuria Marti-Gutierrez; Sang-Wook Park; Jun Wu; Yeonmi Lee; Keiichiro Suzuki; Amy Koski; Dongmei Ji; Tomonari Hayama; Riffat Ahmed; Hayley Darby; Crystal Van Dyken; Ying Li; Eunju Kang; A-Reum Park; Daesik Kim; Sang-Tae Kim; Jianhui Gong; Ying Gu; Xun Xu; David Battaglia; Sacha A Krieg; David M Lee; Diana H Wu; Don P Wolf; Stephen B Heitner; Juan Carlos Izpisua Belmonte; Paula Amato; Jin-Soo Kim; Sanjiv Kaul; Shoukhrat Mitalipov
Journal:  Nature       Date:  2017-08-02       Impact factor: 49.962

6.  Haplotype phasing of whole human genomes using bead-based barcode partitioning in a single tube.

Authors:  Fan Zhang; Lena Christiansen; Jerushah Thomas; Dmitry Pokholok; Ros Jackson; Natalie Morrell; Yannan Zhao; Melissa Wiley; Emily Welch; Erich Jaeger; Ana Granat; Steven J Norberg; Aaron Halpern; Maria C Rogert; Mostafa Ronaghi; Jay Shendure; Niall Gormley; Kevin L Gunderson; Frank J Steemers
Journal:  Nat Biotechnol       Date:  2017-06-26       Impact factor: 54.908

7.  Chromosome Y-encoded antigens associate with acute graft-versus-host disease in sex-mismatched stem cell transplant.

Authors:  Wei Wang; Hu Huang; Michael Halagan; Cynthia Vierra-Green; Michael Heuer; Jason E Brelsford; Michael Haagenson; Richard H Scheuermann; Amalio Telenti; William Biggs; Nathaniel M Pearson; Julia Udell; Stephen Spellman; Martin Maiers; Caleb J Kennedy
Journal:  Blood Adv       Date:  2018-10-09

8.  Set-theory based benchmarking of three different variant callers for targeted sequencing.

Authors:  Jose Arturo Molina-Mora; Mariela Solano-Vargas
Journal:  BMC Bioinformatics       Date:  2021-01-07       Impact factor: 3.169

9.  Fast and accurate HLA typing from short-read next-generation sequence data with xHLA.

Authors:  Chao Xie; Zhen Xuan Yeo; Marie Wong; Jason Piper; Tao Long; Ewen F Kirkness; William H Biggs; Ken Bloom; Stephen Spellman; Cynthia Vierra-Green; Colleen Brady; Richard H Scheuermann; Amalio Telenti; Sally Howard; Suzanne Brewerton; Yaron Turpaz; J Craig Venter
Journal:  Proc Natl Acad Sci U S A       Date:  2017-07-03       Impact factor: 11.205

10.  Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care.

Authors:  Alina Khromykh; Benjamin D Solomon; Dale L Bodian; Eyby L Leon; Ramaswamy K Iyer; Robin L Baker; David P Ascher; Rajiv Baveja; Joseph G Vockley; John E Niederhuber
Journal:  Mol Syndromol       Date:  2015-07-03
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