Posts Tagged ‘alleleseq’

CATO score

May 28, 2017

Seq. variants influencing…TF occupancy
http://www.Nature.com/ng/journal/v47/n12/full/ng.3432.html Uses allelic analysis to develop the CATO score, how variants alter binding

QT:{{”
This approach resulted in a simple scoring scheme, termed contextual analysis of transcription factor occupancy (CATO), that provides a recalibrated probability of affecting the binding of any transcription factor, as well as a quantitatively ranked list of transcription factor families whose binding might be altered.
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Scientists are assembling a new picture of humanity

December 4, 2016

Assembling a new picture of humanity by @CarlZimmer
https://www.statnews.com/2016/10/07/dna-genome-sequencing-new-maps/ 1 graph to represent everyone, counterpoint to #personalgenomes

CTCF-Mediated Human 3D Genome Architecture Reveals Chromatin Topology for Transcription: Cell

March 4, 2016

CTCF-Mediated…3D Genome Architecture
http://www.cell.com/cell/abstract/S0092-8674(15)01504-4 SNPs give different #chromatin topologies, including strong #allelic effects

Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins : Nature Genetics : Nature Publishing Group

March 3, 2016

Gene-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 ViƱuela, Matthew N Davies, Hou-Feng Zheng, J Brent Richards, Daniel Glass, Kerrin S Small, Richard Durbin, Timothy D Spector & Emmanouil T Dermitzakis

http://www.nature.com/ng/journal/v47/n1/full/ng.3162.html

10x

April 23, 2015

http://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, 2015

http://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, 2015

Genome 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, 2015

Analysis 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, 2015

WASP: 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.
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twin ASEs

December 15, 2014

http://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 ViƱuela,
Matthew N Davies,
Hou-Feng Zheng,
J Brent Richards,
Daniel Glass,
Kerrin S Small,
Richard Durbin,
Timothy D Spector
& Emmanouil T Dermitzakis