linkstream2 microblog

https://www.genecards.org/cgi-bin/carddisp.pl?gene=ADORA1

TWAS of 229k women identifies new candidate susceptibility genes for breast cancer https://www.Nature.com/articles/s41588-018-0132-x Metascan approach. Derive model for imputing transcriptome from #GTEx & validate against TCGA. Application to BCAC.

Genome-wide prediction & functional characterization of the genetic basis of autism spectrum disorder, by @OlgaTroyanskaya lab
https://www.Nature.com/articles/nn.4353 Intersected candidate #ASD genes w/ #BrainSpan gene expression to find a pre-natal signal for the disease

https://linkstream2.gerstein.info/tag/talk20180606/
https://twitter.com/MarkGerstein/status/1004566413036617728

Alternative evolutionary histories in the sequence space of an ancient protein https://www.Nature.com/articles/nature23902 Great viz of different potential but not necessarily realized evolutionary trajectories. Quite relevant for molecular #evolution & #pseudogenes

Susceptibility of brain atrophy to TRIB3 in #Alzheimer’s disease, evidence from functional prioritization in imaging genetics
http://www.PNAS.org/content/115/12/3162.long Nice connection of developing phenotypes from #imaging, combined w. simple polygenic scores from genotypes

http://adni.loni.usc.edu/

Genome-Scale Signatures of Gene Interaction from #CompoundScreens Predict…Efficacy of Targeted Cancer Therapies
https://www.ScienceDirect.com/science/article/pii/S2405471218300097 How to find drug combos: Find expression response profiles associated w/ a drug target. A synergistic drug might change profiles similarly

Fast, scalable prediction of deleterious #noncoding variants from functional & population genomic data
https://www.Nature.com/articles/ng.3810 LINSIGHT, by @ASiepel et al., combines DNAse & conservation information

Yi-Fei Huang, Brad Gulko & Adam Siepel
Nature Genetics 49, 618–624 (2017)
doi:10.1038/ng.3810
Published online:
13 March 2017

3D clusters of somatic mutations…reveal numerous rare mutations as functional targets
https://GenomeMedicine.BiomedCentral.com/articles/10.1186/s13073-016-0393-x Introduces 3DHotSpots, which is one of a number of recent approaches (incl. CLUMPS, Hotspot3D, Mutation3D & HotMAPS) for finding groupings of somatic SNVs via structure