Interested in Neuroscience Big Data? Make a quick trip to Cleveland! neurosciencenetwork.org/ACNN_Workshop_…
Medicine is not a short answer task. Explanations matter! twitter.com/rogerschank/st… Retweeted by Will Bush
.@MarylynRitchie presenting on a public resource for DiscovEHR association results #ASHG16
Corinne Simonti - fantastic work with Tony Capra @vanderbilt regarding regulatory potential of TEs #ASHG16 Retweeted by Will Bush
AS: Whole Blood eQTLs show enrichments for trait associations in only half the traits tested #ASHG16
Ayellet Segre on eQTL integration with GWAS as part of GTEx #ASHG16
AB: contrasting age, telomere length, and loss of X, Y, and copy number of Mitchochondrial genome. #ASHG16
DM: New gnomAD dataset with 126K exomes and 15K genomes- complex variant calling process to consolidate multiple studies #ASHG16
DM: ExAC success due to large and diverse sample sets; still not large enough for lots of questions #ASHG16
Dan McArthur (@dgmacarthur) up to discuss the data aggregation (and I assume ExAC consortium work!) #ASHG16
#ASHG16 great question about confounding biological and clinical factors from DT PheWAS on lab values...
RD: Implementation/return of results for 27 actionable diseases - 3.5% of sequenced participants. #ASHG16
RD: "essential" genes less tolerant to LOF variants #ASHG16
Rick Dewey on the #DiscovEHR project - a Geisinger Regeneron collaboration with exome-seq on 50K. #ASHG16
#ASHG16 NT using emergency contact information to link EHRs by familial relationships
Nick Tatonetti up to discuss using EHRs to study heritability of disease without genetics #ASHG16
Epistasis in the Presidential Address at #ASHG16!
