Literature DB >> 26381377

Tools and best practices for data processing in allelic expression analysis.

Stephane E Castel1,2, Ami Levy-Moonshine3, Pejman Mohammadi4,5, Eric Banks3, Tuuli Lappalainen6,7.   

Abstract

Allelic expression analysis has become important for integrating genome and transcriptome data to characterize various biological phenomena such as cis-regulatory variation and nonsense-mediated decay. We analyze the properties of allelic expression read count data and technical sources of error, such as low-quality or double-counted RNA-seq reads, genotyping errors, allelic mapping bias, and technical covariates due to sample preparation and sequencing, and variation in total read depth. We provide guidelines for correcting such errors, show that our quality control measures improve the detection of relevant allelic expression, and introduce tools for the high-throughput production of allelic expression data from RNA-sequencing data.

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Mesh:

Year:  2015        PMID: 26381377      PMCID: PMC4574606          DOI: 10.1186/s13059-015-0762-6

Source DB:  PubMed          Journal:  Genome Biol        ISSN: 1474-7596            Impact factor:   13.583


  42 in total

1.  A powerful and flexible statistical framework for testing hypotheses of allele-specific gene expression from RNA-seq data.

Authors:  Daniel A Skelly; Marnie Johansson; Jennifer Madeoy; Jon Wakefield; Joshua M Akey
Journal:  Genome Res       Date:  2011-08-26       Impact factor: 9.043

2.  Allelic mapping bias in RNA-sequencing is not a major confounder in eQTL studies.

Authors:  Nikolaos I Panousis; Maria Gutierrez-Arcelus; Emmanouil T Dermitzakis; Tuuli Lappalainen
Journal:  Genome Biol       Date:  2014-09-20       Impact factor: 13.583

3.  Architecture of the human regulatory network derived from ENCODE data.

Authors:  Mark B Gerstein; Anshul Kundaje; Manoj Hariharan; Stephen G Landt; Koon-Kiu Yan; Chao Cheng; Xinmeng Jasmine Mu; Ekta Khurana; Joel Rozowsky; Roger Alexander; Renqiang Min; Pedro Alves; Alexej Abyzov; Nick Addleman; Nitin Bhardwaj; Alan P Boyle; Philip Cayting; Alexandra Charos; David Z Chen; Yong Cheng; Declan Clarke; Catharine Eastman; Ghia Euskirchen; Seth Frietze; Yao Fu; Jason Gertz; Fabian Grubert; Arif Harmanci; Preti Jain; Maya Kasowski; Phil Lacroute; Jing Jane Leng; Jin Lian; Hannah Monahan; Henriette O'Geen; Zhengqing Ouyang; E Christopher Partridge; Dorrelyn Patacsil; Florencia Pauli; Debasish Raha; Lucia Ramirez; Timothy E Reddy; Brian Reed; Minyi Shi; Teri Slifer; Jing Wang; Linfeng Wu; Xinqiong Yang; Kevin Y Yip; Gili Zilberman-Schapira; Serafim Batzoglou; Arend Sidow; Peggy J Farnham; Richard M Myers; Sherman M Weissman; Michael Snyder
Journal:  Nature       Date:  2012-09-06       Impact factor: 49.962

4.  Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.

Authors:  Manuel A Rivas; Matti Pirinen; Donald F Conrad; Monkol Lek; Emily K Tsang; Konrad J Karczewski; Julian B Maller; Kimberly R Kukurba; David S DeLuca; Menachem Fromer; Pedro G Ferreira; Kevin S Smith; Rui Zhang; Fengmei Zhao; Eric Banks; Ryan Poplin; Douglas M Ruderfer; Shaun M Purcell; Taru Tukiainen; Eric V Minikel; Peter D Stenson; David N Cooper; Katharine H Huang; Timothy J Sullivan; Jared Nedzel; Carlos D Bustamante; Jin Billy Li; Mark J Daly; Roderic Guigo; Peter Donnelly; Kristin Ardlie; Michael Sammeth; Emmanouil T Dermitzakis; Mark I McCarthy; Stephen B Montgomery; Tuuli Lappalainen; Daniel G MacArthur
Journal:  Science       Date:  2015-05-08       Impact factor: 47.728

5.  A systematic survey of loss-of-function variants in human protein-coding genes.

Authors:  Daniel G MacArthur; Suganthi Balasubramanian; Adam Frankish; Ni Huang; James Morris; Klaudia Walter; Luke Jostins; Lukas Habegger; Joseph K Pickrell; Stephen B Montgomery; Cornelis A Albers; Zhengdong D Zhang; Donald F Conrad; Gerton Lunter; Hancheng Zheng; Qasim Ayub; Mark A DePristo; Eric Banks; Min Hu; Robert E Handsaker; Jeffrey A Rosenfeld; Menachem Fromer; Mike Jin; Xinmeng Jasmine Mu; Ekta Khurana; Kai Ye; Mike Kay; Gary Ian Saunders; Marie-Marthe Suner; Toby Hunt; If H A Barnes; Clara Amid; Denise R Carvalho-Silva; Alexandra H Bignell; Catherine Snow; Bryndis Yngvadottir; Suzannah Bumpstead; David N Cooper; Yali Xue; Irene Gallego Romero; Jun Wang; Yingrui Li; Richard A Gibbs; Steven A McCarroll; Emmanouil T Dermitzakis; Jonathan K Pritchard; Jeffrey C Barrett; Jennifer Harrow; Matthew E Hurles; Mark B Gerstein; Chris Tyler-Smith
Journal:  Science       Date:  2012-02-17       Impact factor: 47.728

6.  Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing.

Authors:  Maria Gutierrez-Arcelus; Halit Ongen; Tuuli Lappalainen; Stephen B Montgomery; Alfonso Buil; Alisa Yurovsky; Julien Bryois; Ismael Padioleau; Luciana Romano; Alexandra Planchon; Emilie Falconnet; Deborah Bielser; Maryline Gagnebin; Thomas Giger; Christelle Borel; Audrey Letourneau; Periklis Makrythanasis; Michel Guipponi; Corinne Gehrig; Stylianos E Antonarakis; Emmanouil T Dermitzakis
Journal:  PLoS Genet       Date:  2015-01-29       Impact factor: 5.917

7.  Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals.

Authors:  Alexis Battle; Sara Mostafavi; Xiaowei Zhu; James B Potash; Myrna M Weissman; Courtney McCormick; Christian D Haudenschild; Kenneth B Beckman; Jianxin Shi; Rui Mei; Alexander E Urban; Stephen B Montgomery; Douglas F Levinson; Daphne Koller
Journal:  Genome Res       Date:  2013-10-03       Impact factor: 9.043

8.  ASEQ: fast allele-specific studies from next-generation sequencing data.

Authors:  Alessandro Romanel; Sara Lago; Davide Prandi; Andrea Sboner; Francesca Demichelis
Journal:  BMC Med Genomics       Date:  2015-03-01       Impact factor: 3.063

9.  Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data.

Authors:  Jacob F Degner; John C Marioni; Athma A Pai; Joseph K Pickrell; Everlyne Nkadori; Yoav Gilad; Jonathan K Pritchard
Journal:  Bioinformatics       Date:  2009-10-06       Impact factor: 6.937

10.  Fine-mapping cellular QTLs with RASQUAL and ATAC-seq.

Authors:  Natsuhiko Kumasaka; Andrew J Knights; Daniel J Gaffney
Journal:  Nat Genet       Date:  2015-12-14       Impact factor: 38.330

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  125 in total

1.  MYB-FL controls gain and loss of floral UV absorbance, a key trait affecting pollinator preference and reproductive isolation.

Authors:  Hester Sheehan; Michel Moser; Ulrich Klahre; Korinna Esfeld; Alexandre Dell'Olivo; Therese Mandel; Sabine Metzger; Michiel Vandenbussche; Loreta Freitas; Cris Kuhlemeier
Journal:  Nat Genet       Date:  2015-12-14       Impact factor: 38.330

Review 2.  Advances in Transcriptomics: Investigating Cardiovascular Disease at Unprecedented Resolution.

Authors:  Robert C Wirka; Milos Pjanic; Thomas Quertermous
Journal:  Circ Res       Date:  2018-04-27       Impact factor: 17.367

3.  Bayesian estimation of genetic regulatory effects in high-throughput reporter assays.

Authors:  William H Majoros; Young-Sook Kim; Alejandro Barrera; Fan Li; Xingyan Wang; Sarah J Cunningham; Graham D Johnson; Cong Guo; William L Lowe; Denise M Scholtens; M Geoffrey Hayes; Timothy E Reddy; Andrew S Allen
Journal:  Bioinformatics       Date:  2020-01-15       Impact factor: 6.937

4.  Statistical Modeling of High Dimensional Counts.

Authors:  Michael I Love
Journal:  Methods Mol Biol       Date:  2021

5.  De novo assembly and phasing of a Korean human genome.

Authors:  Jeong-Sun Seo; Arang Rhie; Junsoo Kim; Sangjin Lee; Min-Hwan Sohn; Chang-Uk Kim; Alex Hastie; Han Cao; Ji-Young Yun; Jihye Kim; Junho Kuk; Gun Hwa Park; Juhyeok Kim; Hanna Ryu; Jongbum Kim; Mira Roh; Jeonghun Baek; Michael W Hunkapiller; Jonas Korlach; Jong-Yeon Shin; Changhoon Kim
Journal:  Nature       Date:  2016-10-05       Impact factor: 49.962

6.  Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Authors:  Beryl B Cummings; Jamie L Marshall; Taru Tukiainen; Monkol Lek; Sandra Donkervoort; A Reghan Foley; Veronique Bolduc; Leigh B Waddell; Sarah A Sandaradura; Gina L O'Grady; Elicia Estrella; Hemakumar M Reddy; Fengmei Zhao; Ben Weisburd; Konrad J Karczewski; Anne H O'Donnell-Luria; Daniel Birnbaum; Anna Sarkozy; Ying Hu; Hernan Gonorazky; Kristl Claeys; Himanshu Joshi; Adam Bournazos; Emily C Oates; Roula Ghaoui; Mark R Davis; Nigel G Laing; Ana Topf; Peter B Kang; Alan H Beggs; Kathryn N North; Volker Straub; James J Dowling; Francesco Muntoni; Nigel F Clarke; Sandra T Cooper; Carsten G Bönnemann; Daniel G MacArthur
Journal:  Sci Transl Med       Date:  2017-04-19       Impact factor: 17.956

7.  Genomic basis for RNA alterations in cancer.

Authors:  Claudia Calabrese; Natalie R Davidson; Deniz Demircioğlu; Nuno A Fonseca; Yao He; André Kahles; Kjong-Van Lehmann; Fenglin Liu; Yuichi Shiraishi; Cameron M Soulette; Lara Urban; Liliana Greger; Siliang Li; Dongbing Liu; Marc D Perry; Qian Xiang; Fan Zhang; Junjun Zhang; Peter Bailey; Serap Erkek; Katherine A Hoadley; Yong Hou; Matthew R Huska; Helena Kilpinen; Jan O Korbel; Maximillian G Marin; Julia Markowski; Tannistha Nandi; Qiang Pan-Hammarström; Chandra Sekhar Pedamallu; Reiner Siebert; Stefan G Stark; Hong Su; Patrick Tan; Sebastian M Waszak; Christina Yung; Shida Zhu; Philip Awadalla; Chad J Creighton; Matthew Meyerson; B F Francis Ouellette; Kui Wu; Huanming Yang; Alvis Brazma; Angela N Brooks; Jonathan Göke; Gunnar Rätsch; Roland F Schwarz; Oliver Stegle; Zemin Zhang
Journal:  Nature       Date:  2020-02-05       Impact factor: 49.962

8.  Buffering of Genetic Regulatory Networks in Drosophila melanogaster.

Authors:  Justin M Fear; Luis G León-Novelo; Alison M Morse; Alison R Gerken; Kjong Van Lehmann; John Tower; Sergey V Nuzhdin; Lauren M McIntyre
Journal:  Genetics       Date:  2016-05-18       Impact factor: 4.562

9.  Integrative Multi-omic Analysis of Human Platelet eQTLs Reveals Alternative Start Site in Mitofusin 2.

Authors:  Lukas M Simon; Edward S Chen; Leonard C Edelstein; Xianguo Kong; Seema Bhatlekar; Isidore Rigoutsos; Paul F Bray; Chad A Shaw
Journal:  Am J Hum Genet       Date:  2016-04-28       Impact factor: 11.025

10.  The GTEx Consortium atlas of genetic regulatory effects across human tissues.

Authors: 
Journal:  Science       Date:  2020-09-11       Impact factor: 47.728

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