Resources

MontgomeryLab

Stanford University at School of Medicine

ANT-seq Ancestry inference through microfluidic multiplex PCR and targeted sequencing

EAGLE Detection of GxE interactions in transcriptome data

EigenMT An efficient multiple hypothesis testing correction for eQTLs

IPF Gene Explorer A web server for investigating differential expression and splicing in idiopathic pulmonary fibrosis lung tissue.

ORegAnno: Open Regulatory Annotation Database A database of literature curated gene regulatory elements and regulatory variants.

Path-scan A reporting tool for identifying clinically actionable variants.

Sardinia eQTL browser Browse Sardinian eQTLs from Pala, Zappala et al.

Sex-specific eQTL browser Browse sex-specific eQTLs from Kukurba et al.

Sockeye, Chinook and CHuM 3D genome visualization, peer-to-peer bioinformatics and machine-learning for regulatory variation (pre-2006).

SplicePlot A tool for visualizing splicing quantitative trait loci (sQTL).

Liu et al, Genetic regulatory mechanisms of smooth muscle cells map to coronary artery disease risk loci - eQTL and sQTL summary statistics

Pala, Zappala et al, Nature Genetics, 2017 "Individual- and population-specific regulatory variation in Sardinia" - supplemental code/info page

Kukurba et al.,, PloS Genetics, 2013 "Allelic expression of deleterious protein-coding variants across human tissues" - supplemental info page

Montgomery et al., Nature, 2010 "Transcriptome genetics using second generation sequencing in a Caucasian sample" - supplemental info page

Pathology Genetics Computer Science CEHG Wiki (Internal)