Archive for the ‘SciLit’ Category

A Polymerase Theta-dependent repair pathway suppresses extensive genomic instability at endogenous G4 DNA sites : Nature Communications : Nature Publishing Group

Sunday, May 11th, 2014

http://www.nature.com/ncomms/2014/140205/ncomms4216/full/ncomms4216.html Mentioned as a mechanism for “occasional presence of templated insertions.”

Nature Genetics calls for data analysis papers

Friday, May 9th, 2014

Call for… analysis papers: nice description of hypothesis generation v. validation & 3 types of #network robustness
http://www.nature.com/ng/journal/v46/n3/full/ng.2914.html

Call for data analysis papers
Nature Genetics 46, 213 (2014) doi:10.1038/ng.2914Published online 26 February 2014
Deadline expired but maybe still relevant…

Another VAT!

Friday, May 9th, 2014

Variant Association Tools for Quality Control and Analysis of Large-Scale Sequence and Genotyping Array Data

http://www.cell.com/ajhg/abstract/S0002-9297(14)00176-1

vs

http://papers.gersteinlab.org/papers/vat

Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

Friday, May 9th, 2014

http://www.cell.com/ajhg/abstract/S0002-9297(14)00112-8

Sequencing of 50 Human Exomes Reveals Adaptation to High Altitude

Thursday, May 8th, 2014

Contains a tree-based way of determining positive selection

https://www.sciencemag.org/content/329/5987/75.abs

Common SNPs explain a large proportion of the heritability for human height : Nature Genetics : Nature Publishing Group

Thursday, May 8th, 2014

http://www.nature.com/ng/journal/v42/n7/abs/ng.608.html

7% of 1000 genomes data contaminated…

Friday, May 2nd, 2014

http://www.biodatamining.org/content/7/1/3

Atomdroid: A Computational Chemistry Tool for Mobile Platforms

Friday, May 2nd, 2014

http://pubs.acs.org/doi/abs/10.1021/ci2004219

Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism

Sunday, April 27th, 2014

Protein… #network of alternatively spliced isoforms from brain…: Half of the interactions from #splicing variants
http://www.nature.com/ncomms/2014/140411/ncomms4650/abs/ncomms4650.html

PLOS ONE: Burst of Young Retrogenes and Independent Retrogene Formation in Mammals

Saturday, April 19th, 2014

Burst of Young Retrogenes…in Mammals. Discusses much
retro-transposition ~40 Mya, relevant to proc. #pseudogenes
http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0005040

Also, ref #11 provides more detail on this.