Literature DB >> 22006915

Mapping personal functional data to personal genomes.

Marcelo Rivas-Astroza1, Dan Xie, Xiaoyi Cao, Sheng Zhong.   

Abstract

MOTIVATION: The sequencing of personal genomes enabled analysis of variation in transcription factor (TF) binding, chromatin structure and gene expression and indicated how they contribute to phenotypic variation. It is hypothesized that using the reference genome for mapping ChIP-seq or RNA-seq reads may introduce errors, especially at polymorphic genomic regions.
RESULTS: We developed a Personal Genome Editor (perEditor) that changes the reference human genome (NCBI36/hg18) into an individual genome, taking into account single nucleotide polymorphisms (SNPs), insertions and deletions, copy number variation, and chromosomal rearrangements. perEditor outputs two alleles (maternal, paternal) of the individual genome that is ready for mapping ChIP-seq and RNA-seq reads, and enabling the analyses of allele specific binding, chromatin structure and gene expression. AVAILABILITY: perEditor is available at http://biocomp.bioen.uiuc.edu/perEditor. CONTACT: szhong@illinois.edu.

Entities:  

Mesh:

Year:  2011        PMID: 22006915      PMCID: PMC3232370          DOI: 10.1093/bioinformatics/btr578

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


  9 in total

1.  Heritable individual-specific and allele-specific chromatin signatures in humans.

Authors:  Ryan McDaniell; Bum-Kyu Lee; Lingyun Song; Zheng Liu; Alan P Boyle; Michael R Erdos; Laura J Scott; Mario A Morken; Katerina S Kucera; Anna Battenhouse; Damian Keefe; Francis S Collins; Huntington F Willard; Jason D Lieb; Terrence S Furey; Gregory E Crawford; Vishwanath R Iyer; Ewan Birney
Journal:  Science       Date:  2010-03-18       Impact factor: 47.728

2.  Variation in transcription factor binding among humans.

Authors:  Maya Kasowski; Fabian Grubert; Christopher Heffelfinger; Manoj Hariharan; Akwasi Asabere; Sebastian M Waszak; Lukas Habegger; Joel Rozowsky; Minyi Shi; Alexander E Urban; Mi-Young Hong; Konrad J Karczewski; Wolfgang Huber; Sherman M Weissman; Mark B Gerstein; Jan O Korbel; Michael Snyder
Journal:  Science       Date:  2010-03-18       Impact factor: 47.728

3.  Widespread RNA and DNA sequence differences in the human transcriptome.

Authors:  Mingyao Li; Isabel X Wang; Yun Li; Alan Bruzel; Allison L Richards; Jonathan M Toung; Vivian G Cheung
Journal:  Science       Date:  2011-05-19       Impact factor: 47.728

4.  A map of human genome variation from population-scale sequencing.

Authors:  Gonçalo R Abecasis; David Altshuler; Adam Auton; Lisa D Brooks; Richard M Durbin; Richard A Gibbs; Matt E Hurles; Gil A McVean
Journal:  Nature       Date:  2010-10-28       Impact factor: 49.962

5.  A comprehensive catalogue of somatic mutations from a human cancer genome.

Authors:  Erin D Pleasance; R Keira Cheetham; Philip J Stephens; David J McBride; Sean J Humphray; Chris D Greenman; Ignacio Varela; Meng-Lay Lin; Gonzalo R Ordóñez; Graham R Bignell; Kai Ye; Julie Alipaz; Markus J Bauer; David Beare; Adam Butler; Richard J Carter; Lina Chen; Anthony J Cox; Sarah Edkins; Paula I Kokko-Gonzales; Niall A Gormley; Russell J Grocock; Christian D Haudenschild; Matthew M Hims; Terena James; Mingming Jia; Zoya Kingsbury; Catherine Leroy; John Marshall; Andrew Menzies; Laura J Mudie; Zemin Ning; Tom Royce; Ole B Schulz-Trieglaff; Anastassia Spiridou; Lucy A Stebbings; Lukasz Szajkowski; Jon Teague; David Williamson; Lynda Chin; Mark T Ross; Peter J Campbell; David R Bentley; P Andrew Futreal; Michael R Stratton
Journal:  Nature       Date:  2009-12-16       Impact factor: 49.962

6.  Inter- and intra-individual variation in allele-specific DNA methylation and gene expression in children conceived using assisted reproductive technology.

Authors:  Nahid Turan; Sunita Katari; Leigh F Gerson; Raffi Chalian; Michael W Foster; John P Gaughan; Christos Coutifaris; Carmen Sapienza
Journal:  PLoS Genet       Date:  2010-07-22       Impact factor: 5.917

7.  Ultrafast and memory-efficient alignment of short DNA sequences to the human genome.

Authors:  Ben Langmead; Cole Trapnell; Mihai Pop; Steven L Salzberg
Journal:  Genome Biol       Date:  2009-03-04       Impact factor: 13.583

8.  Personal genomes in progress: from the human genome project to the personal genome project.

Authors:  Jeantine E Lunshof; Jason Bobe; John Aach; Misha Angrist; Joseph V Thakuria; Daniel B Vorhaus; Margret R Hoehe; George M Church
Journal:  Dialogues Clin Neurosci       Date:  2010       Impact factor: 5.986

9.  A small-cell lung cancer genome with complex signatures of tobacco exposure.

Authors:  Erin D Pleasance; Philip J Stephens; Sarah O'Meara; David J McBride; Alison Meynert; David Jones; Meng-Lay Lin; David Beare; King Wai Lau; Chris Greenman; Ignacio Varela; Serena Nik-Zainal; Helen R Davies; Gonzalo R Ordoñez; Laura J Mudie; Calli Latimer; Sarah Edkins; Lucy Stebbings; Lina Chen; Mingming Jia; Catherine Leroy; John Marshall; Andrew Menzies; Adam Butler; Jon W Teague; Jonathon Mangion; Yongming A Sun; Stephen F McLaughlin; Heather E Peckham; Eric F Tsung; Gina L Costa; Clarence C Lee; John D Minna; Adi Gazdar; Ewan Birney; Michael D Rhodes; Kevin J McKernan; Michael R Stratton; P Andrew Futreal; Peter J Campbell
Journal:  Nature       Date:  2009-12-16       Impact factor: 49.962

  9 in total
  5 in total

1.  Towards mouse genetic-specific RNA-sequencing read mapping.

Authors:  Nastassia Gobet; Maxime Jan; Paul Franken; Ioannis Xenarios
Journal:  PLoS Comput Biol       Date:  2022-09-26       Impact factor: 4.779

2.  RNA-Seq alignment to individualized genomes improves transcript abundance estimates in multiparent populations.

Authors:  Steven C Munger; Narayanan Raghupathy; Kwangbom Choi; Allen K Simons; Daniel M Gatti; Douglas A Hinerfeld; Karen L Svenson; Mark P Keller; Alan D Attie; Matthew A Hibbs; Joel H Graber; Elissa J Chesler; Gary A Churchill
Journal:  Genetics       Date:  2014-09       Impact factor: 4.562

3.  One Size Doesn't Fit All - RefEditor: Building Personalized Diploid Reference Genome to Improve Read Mapping and Genotype Calling in Next Generation Sequencing Studies.

Authors:  Shuai Yuan; H Richard Johnston; Guosheng Zhang; Yun Li; Yi-Juan Hu; Zhaohui S Qin
Journal:  PLoS Comput Biol       Date:  2015-08-12       Impact factor: 4.475

4.  Sources of bias in measures of allele-specific expression derived from RNA-sequence data aligned to a single reference genome.

Authors:  Kraig R Stevenson; Joseph D Coolon; Patricia J Wittkopp
Journal:  BMC Genomics       Date:  2013-08-07       Impact factor: 3.969

5.  A haplotype-based normalization technique for the analysis and detection of allele specific expression.

Authors:  Alan Hodgkinson; Jean-Christophe Grenier; Elias Gbeha; Philip Awadalla
Journal:  BMC Bioinformatics       Date:  2016-09-13       Impact factor: 3.169

  5 in total

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