Posts Tagged ‘#genomics’

Some interesting mutation assessor tools featured at Automated Personal Genome Analysis

Monday, May 6th, 2013

CRAVAT
Cancer-Related Analysis of VAriants Toolkit
http://www.cravat.us/

Carter H, Douville C, Yeo G, Stenson PD, Cooper DN, Karchin R (2013) Identifying Mendelian disease genes with the Variant Effect Scoring Tool
BMC Genomics. In press

VAAST
http://www.yandell-lab.org/software/vaast.html
(explicit acknowledgement of VAT)

CHASM and SNVBox:
toolkit for detecting biologically important single nucleotide mutations in cancer.
http://www.ncbi.nlm.nih.gov/pubmed/21685053
http://www.chasmsoftware.org

==
http://lane.compbio.cmu.edu/meetings/apga/

Vogelstein v. Lander, Round 1

Monday, May 6th, 2013

http://ecerami.github.io/vogelstein-v-lander-round1.html
Short list of 140 drivers v an ever growing list

Science. 2013 Mar 29;339(6127):1546-58. doi: 10.1126/science.1235122. Cancer genome landscapes.
Vogelstein B, Papadopoulos N, Velculescu VE, Zhou S, Diaz LA Jr, Kinzler KW. QT:”
To date, these studies have revealed ~140 genes that, when altered by intragenic mutations, can promote or “drive” tumorigenesis. A typical tumor contains two to eight of these “driver gene” mutations; the remaining mutations are passengers that confer no selective growth advantage. Driver genes can be classified into 12 signaling pathways that regulate three core cellular processes: cell fate, cell survival, and genome maintenance.

Lessons from the Cancer Genome
http://www.cell.com/abstract/S0092-8674(13)00288-2
QT:”
Systematic studies of the cancer genome have exploded in recent years. These studies have revealed scores of new cancer genes, including many in processes not previously known to be causal targets in cancer. “

Cancers Share Gene Patterns, Studies Affirm – NYTimes.com

Sunday, May 5th, 2013

http://www.nytimes.com/2013/05/02/health/dna-research-points-to-new-insight-into-cancers.html?pagewanted=all&_r=0

Vogelstein v. Lander, Round 1

Saturday, May 4th, 2013

http://ecerami.github.io/vogelstein-v-lander-round1.html

Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA

Saturday, May 4th, 2013

http://www.nature.com/nature/journal/v497/n7447/full/nature12065.html

Patients’ Genes Seen as Future of Cancer Care – NYTimes.com

Monday, April 29th, 2013

http://www.nytimes.com/2013/04/22/health/patients-genes-seen-as-future-of-cancer-care.html Features new WCMC Belfer building

In Cancer Treatment, New DNA Tools – NYTimes.com

Sunday, April 28th, 2013

http://www.nytimes.com/2013/04/28/business/in-cancer-treatment-new-dna-tools.html?smid=tw-nytimesscience&seid=auto&_r=0

Patients’ Genes Seen as Future of Cancer Care – NYTimes.com

Tuesday, April 23rd, 2013

http://www.nytimes.com/2013/04/22/health/patients-genes-seen-as-future-of-cancer-care.html

Relating CNVs to transcriptome data at fine resolution: Assessment of the effect of variant size, type, and overlap with functional regions

Friday, April 19th, 2013

http://genome.cshlp.org/content/21/12/2004.long
initial cnv eqtls

From pseudogenes to proteins

Friday, April 19th, 2013

Gencode perspective on massspec of pseudogenes
http://www.nature.com/nmeth/journal/v8/n6/full/nmeth0611-448b.html