Posts Tagged ‘hy’
2016 News Feature: NIH commits $6.7 million to advance DNA, RNA sequencing technology – National Human Genome Research Institute (NHGRI)
Friday, October 7th, 2016PLOS Genetics: A Massively Parallel Pipeline to Clone DNA Variants and Examine Molecular Phenotypes of Human Disease Mutations
Saturday, February 7th, 2015Massively Parallel Pipeline to Clone DNA Variants & Examine…Disease
Mutations http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1004819 CloneSeq leverages NextGen sequencing
With the advance of sequencing technologies, tens of millions of genomic variants have been discovered in the human population. However, there is no available method to date that is capable of determining the functional impact of these variants on a large scale, which has increasingly become a huge bottleneck for the development of population genetics and personal genomics. Clone-seq and comparative interactome-profiling pipeline is a first to address this issue.
Can be coupled to many readouts.
PLOS Computational Biology: Target Essentiality and Centrality Characterize Drug Side Effects
Thursday, August 7th, 2014Target Essentiality… Characterizes Drug Side Effects – much more so than the total number of targets for a #drug
http://www.ploscompbiol.org/article/info%3Adoi%2F10.1371%2Fjournal.pcbi.100311
Dissecting Disease Inheritance Modes in a Three-Dimensional Protein Network Challenges the “Guilt-by-Asso ciation” Principle
Thursday, August 7th, 2014Inheritance Modes in… #Network Challenges… Guilt-by-Association http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710751 #Diseases of recessive interface SNVs predictable
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710751/
surprisingly, no positional effects on LOF mutations … significant proportion of truncation alleles give rise to functional products
“guilt by assoc works”
signif. number dom mut give rise to func products
Exploring mechanisms of human disease through structurally resolved protein interactome networks
Saturday, July 19th, 2014Mol Biosyst. Author manuscript; available in PMC Jul 1, 2014. Published in final edited form as:
Mol Biosyst. Jan 2014; 10(1): 9–17.
doi: 10.1039/c3mb70225a
Three-dimensional reconstruction of protein networks provides insight into human genetic disease : Nature Biotechnology : Nature Publishing Group
Saturday, July 19th, 2014Dissecting Disease Inheritance Modes in a Three-Dimensional Protein Network Challenges the “Guilt-by-Asso ciation” Principle
Saturday, July 19th, 2014http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710751/
surprisingly, no positional effects on LOF mutations … significant proportion of truncation alleles give rise to functional products
“guilt by assoc works”
signif. number dom mut give rise to func products