Wednesday 29 May 2013

Cell-type, allelic and genetic signatures in the human pancreatic beta cell transcriptome

http://genome.cshlp.org/content/early/2013/05/28/gr.150706.112.abstract.html

The Genotype-Tissue Expression (GTEx) project : Nature Genetics : Nature Publishing Group

http://www.nature.com/ng/journal/v45/n6/full/ng.2653.html?WT.ec_id=NG-201306

SCAN: SNP and CNV Annotation Database

http://www.scandb.org/newinterface/about.html

SCAN is a large-scale database of genetics and genomics data associated to a web-interface and a set of methods and algorithms that can be used for mining the data in it. The database contains two categories of single nucleotide polymorphism (SNP) annotations:

Physical-based annotation where SNPs are categorized according to their position relative to genes (intronic, inter-genic, etc.) and according to linkage disequilibrium (LD) patterns (an inter-genic SNP can be annotated to a gene if it is in LD with variation in the gene).
Functional annotation where SNPs are classified according to their effects on expression levels, i.e. whether they are expression quantitative trait loci (eQTLs) for that gene.

Wednesday 24 April 2013

Using MEMo to Discover Mutual Exclusivity Modules in Cancer

Curr Protoc Bioinformatics. 2013 Mar;Chapter 8:Unit8.17. doi: 10.1002/0471250953.bi0817s41.

Using MEMo to Discover Mutual Exclusivity Modules in Cancer.

Source

Computational Biology Center, Memorial Sloan-Kettering Cancer Center, New York, New York.

Abstract

Although individual tumors show surprisingly diverse genomic alterations, these events tend to occur in a limited number of pathways, and alterations that affect the same pathway tend to not co-occur in the same patient. While pathway analysis has been a powerful tool in cancer genomics, our knowledge of oncogenic pathway modules is incomplete. To systematically identify such modules, we have developed a novel method, Mutual Exclusivity Modules in Cancer (MEMo). The method searches and identifies modules characterized by three properties: (1) member genes are recurrently altered across a set of tumor samples; (2) member genes are known to or are likely to participate in the same biological process; and (3) alteration events within the modules are mutually exclusive. MEMo integrates multiple data types and maps genomic alterations to biological pathways. MEMo's mutual exclusivity uses a statistical model that preserves the number of alterations per gene and per sample. The MEMo software, source code and sample data sets are available for download at: http://cbio.mskcc.org/memo. Curr. Protoc. Bioinform. 41:8.17.1-8.17.12. © 2013 by John Wiley & Sons, Inc.



http://www.ncbi.nlm.nih.gov/pubmed/23504936

Gene-pair expression signatures reveal lineage control : Nature Methods : Nature Publishing Group

http://www.nature.com/nmeth/journal/vaop/ncurrent/abs/nmeth.2445.html

Deanna Church on the Reference Genome Past, Present and Future - Bio-IT World

http://www.bio-itworld.com/2013/4/22/church-on-reference-genomes-past-present-future.html

GRC38

( METAGENOMICS) FunFrame: functional gene ecological analysis pipeline

http://bioinformatics.oxfordjournals.org/content/29/9/1212.short?rss=1&utm_source=feedburner&utm_medium=feed&utm_campaign=Feed%253A+bioinformatics_today+%2528Bioinformatics%2529

MitoSeek: extracting mitochondria information and performing high-throughput mitochondria sequencing analysis

http://bioinformatics.oxfordjournals.org/content/29/9/1210.short?rss=1&utm_source=feedburner&utm_medium=feed&utm_campaign=Feed%253A+bioinformatics_today+%2528Bioinformatics%2529

QIIME Overview Tutorial: de novo OTU picking and diversity analyses

http://qiime.org/tutorials/tutorial.html

Metagenomic analysis.

Saturday 13 April 2013

The FAM ( USP9X) Deubiquitylating Enzyme Localizes to Multiple Points of Protein Trafficking in Epithelia, where It Associates with E-cadherin and -catenin.

http://www.molbiolcell.org/content/15/4/1591.full.pdf


The FAM ( USP9X) Deubiquitylating Enzyme Localizes to Multiple Points of Protein Trafficking in Epithelia,  where It Associates with E-cadherin and -catenin.


USP9X is substrate-specific deubiquitylating enzyme highly expressed in epithelia where it interacts with its
substrate, beta -catenin.


In vivo depletion of USP9X in preimplantation mouse embryos, by addition of siRNA, resulted in a parallel decrease in beta -catenin.

It proves USP9X to be a member of Beta-catenin related pathway.


Cancer Genome Landscapes

http://www.sciencemag.org/content/339/6127/1546

Bert volelstein discusses about the core signalling pathways in human cancers.

Differential principal component analysis of ChIP-seq

http://www.pnas.org/content/early/2013/04/05/1204398110.short

Principal component analysis of chip-seq.

How to identify cancer drivers from tumor somatic mutations?

How to identify cancer drivers from tumor somatic mutations?

http://bg.upf.edu/blog/2012/07/how-to-identify-cancer-drivers-from-tumor-somatic-mutations/

Up, Up, and Array | The Scientist Magazine(R)

http://www.the-scientist.com/?articles.view/articleNo/34779/title/Up--Up--and-Array/

Biography of Todd golub.

Inspiring article.

Form and function : Nature News & Comment

Stories on ENCODE coding and non-coding claims.

USP9x - Smad4 Interaction

http://www.cell.com/retrieve/pii/S0092867408014451



FAM/USP9x, a deubiquitinating enzyme essential for TGFbeta signaling, controls Smad4 monoubiquitination.

Stephen Piccolo' group pointed out that loss of USP9x helps in the promotion of cancer progression through TGF-beta signalling.


http://www.pnas.org/content/109/10/3879.long#ref-23

Read the entire story on

Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing


by Todd Golub team.

Interesting Findings:

Somatic mutations found in  MYD88CARD11EZH2, and CREBBP genes with additional new drivers in MEF2BMLL2,BTG1GNA13ACTBP2RY8PCLO, and TNFRSF14.