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Hughes Group

@FoldingGenome

, 6 tweets, 3 min read

My Authors

We're very proud to finally share our work tackling the best way to decode GWAS hits.

biorxiv.org/cgi/content/sh…

1) We use the fundemental regulatory building blocks, promoters, ehancers, and boundaries, to identify key cell types.

@RonSchwessinger

@RonSchwessinger

2) We then use a combination of pan-genomic and machine learning analyses (developed by the very talented @RonSchwessinger) to predict damaging variants.

@jojdavies

@jojdavies

3) We use high-resolution NG Capture C (invented by @jojdavies and @jrmmhughes) and statistical modelling to link SNPs to the genes they control.

4) Finally we use CRISPR/Cas9 to directly model the effects of SNP allele in vivo; finding both big and small changes in protein binding, chromatin accessibility, epigenetic modification, and gene expression.