Show threadJames Hawley, PhDMar 20, 2023

@InnesBT This review paper by Gasperini, Tome, and Shendure is pretty good for the biology and protocols you can use for answering questions like this:

https://www.nature.com/articles/s41576-019-0209-0

It covers a lot o protocols and methods (#MPRA, #CRISPR screens, #eQTLs, #scRNA-seq, etc), but it doesn't focus as much on the computational construction of those things.

Towards a comprehensive catalogue of validated and target-linked human enhancers - Nature Reviews Genetics

In this Review, Gasperini, Tome and Shendure discuss the evolving definitions of transcriptional enhancers, as well as diverse modern experimental tools to identify them. The authors describe how these diverse mindsets and methods provide differing but complementary insights into enhancers, each with notable strengths and caveats. They discuss how such views and approaches might be combined in a comprehensive catalogue of functional enhancers.

Nature
Phil GreerDec 24, 2022

Happy Holidays all!

The latest work from my old lab was just published showing alterations in T-cell receptor beta in PRSS1 related chronic pancreatitis.

Here is a link to the article with free access until Feb 12th.

#ScienceMastodon #RNAseq #scRNAseq #genomics #EQTLs

https://authors.elsevier.com/c/1gIwI3mEmbnk0

Ana ViñuelaNov 7, 2022

Ok, after a couple of days getting used to this, here is my #introduction

I'm a computational biologist and group leader in Newcastle University (UK) working on the genetics of human age related diseases and the regulation of molecular phenotypes with ageing.

Some Keywords for searches: #genetics #QTLs #eQTLs #multiomics #omics #science #transcriptomics #proteomics #metabolomics #genomics #compbio #diabetes #NAFLD