Posts Tagged ‘alleledb’

illumina platinum genomes paper

January 10, 2017

Set of 5.4M phased…variants…from seq. a 3-gen. 17-member [CEPH] pedigree, centered on #NA12878
http://genome.cshlp.org/content/early/2016/11/25/gr.210500.116 $ILMN Pt genomes

A reference data set of 5.4 million phased human
variants validated by genetic inheritance from
sequencing a three-generation 17-member pedigree

Michael A. Eberle,1 Epameinondas Fritzilas,2 Peter Krusche,2 Morten Källberg,2 Benjamin L. Moore,2 Mitchell A. Bekritsky,2 Zamin Iqbal,3 Han-Yu Chuang,1 Sean J. Humphray,2 Aaron L. Halpern,1 Semyon Kruglyak,1 Elliott H. Margulies,1 Gil McVean,3,4 and David R. Bentley2

http://genome.cshlp.org/content/early/2016/11/25/gr.210500.116

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

IHEC Consortium Papers (Cell + other journals)

November 28, 2016

#IHECpapers rollout http://www.Cell.com/consortium/ihec Gr8 work! incl. #privacy, normal breast epigenetics, ETG links, deconvolution, #allelic activity

Allele-specific transcription factor binding in liver and cervix cells unveils many likely drivers of GWAS signals. – PubMed – NCBI

August 7, 2016

Allele-specific TF binding in liver & cervix cells [HepG2 & HeLa] unveils many likely drivers of GWAS [SNP] signals
http://www.sciencedirect.com/science/article/pii/S0888754316300271

GERV: a statis,tical method for generative evaluation of regulatory variants for transcription factor binding

July 23, 2016

GERV: stats method for generative evaluation of regulatory variants
for TF binding http://bioinformatics.oxfordjournals.org/content/early/2015/11/05/bioinformatics.btv565 Predicts effect of #allelic SNPs

GERV: a statistical method for generative evaluation of regulatory ariants for transcription factor binding

> Haoyang Zeng
> Tatsunori Hashimoto
> Daniel D. Kang
> David K. Gifford

RNA splicing is a primary link between genetic variation and disease | Science

July 4, 2016

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

RNA splicing is a primary link between genetic variation and disease | Science

June 21, 2016

http://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, 2016

http://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, 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 Viñuela, 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?