Recombined allele of..lipase gene CEL & its #pseudogene CELP confers susceptibility to..pancreatitis
http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3249.html CEL-HYB chimera
Posts Tagged ‘sb’
Pseudogene derived chimeric CEL-HYB protein
March 14, 2017Circle of life
November 15, 2014the "circle of life"
http://www.sciencedirect.com/science/article/pii/S0960982214001547#
Volume 24, Issue 6, pR238–R240, 17 March 2014
Evolution: Dynamics of De Novo Gene Emergence
Rafik Neme
Diethard Tautz
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nature Methods (2010) 7: 248-249.
October 11, 2014Server for predicting damaging missense #mutations
http://www.nature.com/nmeth/journal/v7/n4/full/nmeth0410-248.html Polyphen2 uses both structure & sequence (eg ASA & conservation)
http://www.ncbi.nlm.nih.gov/pubmed/20354512
Polyphen2 includes both structural and sequence features to predict the effect of nonsynonymous substitutions on protein function. Similar to many other methods, Polyphen2 uses evolutionary conservation as one of the features to identify functionally important residues. Integration of 3D-structure, membrane-specific features (PHAT matrix for TM regions) and other features such as protein-domain and active-site are the strengths of Polyphen2 compared to other sequence-based software making it a good tool for prediction.
Realizing the promise of cancer predisposition genes : Nature : Nature Publishing Group
September 19, 2014cell free DNA circulating for cancer
May 12, 2014NYT recently ran an article as well:
http://www.nytimes.com/2014/04/08/business/cancer-analysis-tools-circumvent-biopsies.html
http://www.nature.com/nm/journal/v20/n4/abs/nm.3511.html
An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage
http://www.nature.com/nm/journal/vaop/ncurrent/abs/nm.3519.html
http://stm.sciencemag.org/content/6/224/224ra24
http://www.nejm.org/doi/full/10.1056/NEJMoa1213261
http://stm.sciencemag.org/content/4/162/162ra154.full
DIAGNOSTICS: Detection of Chromosomal Alterations in the Circulation of Cancer Patients with Whole-Genome Sequencing
Another VAT!
May 9, 2014Variant 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
age distribution of repeats
March 24, 2014From the following article:
Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium
Nature 409, 860-921(15 February 2001)
doi:10.1038/35057062
Alu age distribution
http://www.nature.com/nature/journal/v409/n6822/fig_tab/409860a0_F18.html
NA12878 high confidence calls
February 20, 2014Integrating genotype from many callers & indication of where they differ. Might be useful for the personal diploid genome.
http://www.nature.com/nbt/journal/vaop/ncurrent/full/nbt.2835.html
linkstream2 microblog 