Splicing is a prim. link betw…variation & disease by @JKPritch, @Y_Gilad &co http://science.sciencemag.org/content/352/6285/600.long many chrom-QTLs effect protein levels
Posts Tagged ‘alleledb’
RNA splicing is a primary link between genetic variation and disease | Science
June 21, 2016http://science.sciencemag.org/content/352/6285/600.long
Yang I. Li1,
Bryce van de Geijn2,
Anil Raj1,
David A. Knowles3,4,
Allegra A. Petti5,
David Golan1,
Yoav Gilad2,*,
Jonathan K. Pritchard1,6,7,*
GERV: a statistical method for generative evaluation of regulatory variants for transcription factor binding
June 21, 2016http://bioinformatics.oxfordjournals.org/content/early/2015/11/05/bioinformatics.btv565
GERV: a statistical method for generative evaluation of regulatory variants for transcription factor binding
Haoyang Zeng
Tatsunori Hashimoto
Daniel D. Kang
David K. Gifford
Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins : Nature Genetics : Nature Publishing Group
March 3, 2016Gene-gene & gene-env interactions…by #transcriptome…in twins by @dermitzakis lab
http://www.nature.com/ng/journal/v47/n1/full/ng.3162.html Nice model for ASE HT @cjieming
Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins
Alfonso Buil, Andrew Anand Brown, Tuuli Lappalainen, Ana Viñuela, Matthew N Davies, Hou-Feng Zheng, J Brent Richards, Daniel Glass, Kerrin S Small, Richard Durbin, Timothy D Spector & Emmanouil T Dermitzakis
10x
April 23, 2015http://www.ncbi.nlm.nih.gov/pubmed/25477383
also
http://www.ncbi.nlm.nih.gov/pubmed/25477383
Nucleic Acids Res. 2015 Feb 27;43(4):e23. doi: 10.1093/nar/gku1252. Epub 2014 Dec 3.
Allele-specific copy number profiling by next-generation DNA sequencing. Chen H1, Bell JM2, Zavala NA2, Ji HP2, Zhang NR3.
perhaps related?
Analyses of allele-specific gene expression in highly divergent mouse crosses identifies pervasive allelic imbalance : Nature Genetics : Nature Publishing Group
March 29, 2015http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3222.html
Nat Genet. 2015 Mar 2. doi: 10.1038/ng.3222. [Epub ahead of print]
Analyses of allele-specific gene expression in highly divergent mouse crosses identifies pervasive allelic imbalance.
Crowley JJ1, Zhabotynsky V1, Sun W2, Huang S3, Pakatci IK3, Kim Y1, Wang JR3, Morgan AP4, Calaway JD4, Aylor DL1, Yun Z1, Bell TA4, Buus RJ4, Calaway ME4, Didion JP4, Gooch TJ4, Hansen SD4, Robinson NN4, Shaw GD4, Spence JS1, Quackenbush CR1, Barrick CJ1, Nonneman RJ1, Kim K5, Xenakis J5, Xie Y1,Valdar W6, Lenarcic AB1, Wang W3, Welsh CE3, Fu CP3, Zhang Z3, Holt J3, Guo Z3, Threadgill DW7, Tarantino LM8, Miller DR4, Zou F5, McMillan L3, Sullivan PF9, Pardo-Manuel de Villena F4.
http://www.nature.com/ng/journal/v47/n4/full/ng.3222.html
Carefully controlled allele expt – hets midway in expr betw homs for parents for 76pct (additive model) but 25pct hets diff. from parents
ASE in…divergent mouse crosses identifies pervasive allelic imbalance, 80%, w/ 60% closely following additive model
http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3222.html
Genome sequence-independent identification of RNA editing sites : Nature Methods : Nature Publishing Group
March 21, 2015Genome sequence-independent identification of #RNA editing
siteshttp://www.nature.com/nmeth/journal/vaop/ncurrent/full/nmeth.3314.html GIREMI uses LD to separate edit sites from #SNPs
Qing Zhang
& Xinshu Xiao
Nature Methods (2015) doi:10.1038/nmeth.3314Received
Automated analysis of high-throughput B-cell sequencing data reveals a high frequency of novel immunoglobulin V gene segment alleles
February 17, 2015Analysis of high-throughput B-cell sequencing
http://www.pnas.org/content/early/2015/02/05/1417683112.abstract Successful locus-level application of #personalgenome construction
WASP: allele-specific software for robust discovery of molecular quantitative trait loci | bioRxiv
January 19, 2015WASP: allele-specific software for robust discovery of molecular quantitative trait loci
Bryce van de Geijn, Graham McVicker, Yoav Gilad, Jonathan Pritchard
doi: http://dx.doi.org/10.1101/011221
http://biorxiv.org/content/early/2014/11/07/011221
QT:{{”
Mapping of reads to a reference genome is biased by sequence polymorphisms6. Reads which contain the non-reference allele may fail to map uniquely or map to a different (incorrect) location in the genome6.
“}}
twin ASEs
December 15, 2014http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3162.html
Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins
Alfonso Buil,
Andrew Anand Brown,
Tuuli Lappalainen,
Ana Viñuela,
Matthew N Davies,
Hou-Feng Zheng,
J Brent Richards,
Daniel Glass,
Kerrin S Small,
Richard Durbin,
Timothy D Spector
& Emmanouil T Dermitzakis
linkstream2 microblog 