Posts Tagged ‘i0ashg14’

Geneticists tap human knockouts

November 1, 2014

Sequenced genomes reveal mutations that disable single genes and can point to new drugs.

Ewen Callaway

28 October 2014 Corrected:
29 October 2014

http://www.nature.com/news/geneticists-tap-human-knockouts-1.16239

You should also read the Corrections to this article
http://www.nature.com/news/geneticists-tap-human-knockouts-1.16239#/correction1

QT:{{”

The poster child for human-knockout efforts is a new class of drugs that block a gene known as PCSK9 (see Nature 496, 152–155; 2013). The gene was discovered in French families with extremely high cholesterol levels in the early 2000s. But researchers soon found that people with rare mutations that inactivate one copy ofPCSK9 have low cholesterol and rarely develop heart disease. The first PCSK9-blocking drugs should hit pharmacies next year, with manufacturers jostling for a share of a market that could reach US$25 billion in five years.

“I think there are hundreds more stories like PCSK9 out there, maybe even thousands,” in which a drug can mimic an advantageous
loss-of-function mutation, says Eric Topol, director of the Scripps Translational Science Institute in La Jolla, California. Mark Gerstein, a bio­informatician at Yale University in New Haven, Connecticut, predicts that human knockouts will be especially useful for identifying drugs that treat diseases of ageing. “You could imagine there’s a gene that is beneficial to you as a 25-year-old, but the thing is not doing a good job for you when you’re 75.”

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My Public Notes from ASHG 14

October 24, 2014

http://lectures.gersteinlab.org/summary/Overview_ENCODE_Elements–20141018-i0ashg14

http://lectures.gersteinlab.org/summary/SVs_n_Pgenes–20141019-i0ashg14+SV

http://archive.gersteinlab.org/meetings/s/2014/10.24/i0ashg14-talk-for-A-Frankish-on-Gencode

(Lab-only link to a ppt I gave, some with “audio” annotation.)

https://storify.com/markgerstein/favorite-tweets-from-ashg-14-ashg14-i0ashg14

https://linkstream2.gerstein.info/tag/i0ashg14

My Public Notes from ASHG 14

October 24, 2014

https://storify.com/markgerstein/favorite-tweets-from-ashg-14-ashg14-i0ashg14 https://linkstream2.gerstein.info/tag/i0ashg14

Fighting a One-of-a-Kind Disease

October 24, 2014

http://www.newyorker.com/magazine/2014/07/21/one-of-a-kind-2

BMC Bioinformatics | Full text | GAPscreener: An Automatic Tool for Screening Human Genetic Association Literature in PubMed Using the Support Vector Machine Technique

October 24, 2014

http://www.biomedcentral.com/1471-2105/9/205

Is everything we eat associated with cancer? A systematic cookbook review

October 24, 2014

http://ajcn.nutrition.org/content/97/1/127.long

Primates and mouse NumtS in the UCSC Genome Browser

October 24, 2014

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314570 as ref. to current annotation in human

The genomic landscape of polymorphic human nuclear mitochondrial insertions | bioRxiv

October 24, 2014

http://biorxiv.org/content/early/2014/08/19/008144

Assembling Large Genomes with Single-Molecule Sequencing and Locality Sensitive Hashing | bioRxiv

October 24, 2014

http://biorxiv.org/content/early/2014/08/14/008003

PLOS Computational Biology: Analysis of Stop-Gain and Frameshift Variants in Human Innate Immunity Genes

October 24, 2014

http://www.ploscompbiol.org/article/info%3Adoi%2F10.1371%2Fjournal.pcbi.1003757