Posts Tagged ‘ukbb’

UK Biobank 450k Whole Exome release coming soon on the Research Analysis Platform

November 2, 2021

Article
Published: 18 October 2021
Exome sequencing and analysis of 454,787 UK Biobank participants

Joshua D. Backman, Alexander H. Li, Anthony Marcketta, Dylan Sun, Joelle Mbatchou, Michael D. Kessler, Christian Benner, Daren Liu, Adam E. Locke, Suganthi Balasubramanian, Ashish Yadav, Nilanjana Banerjee, Christopher Gillies, Amy Damask, Simon Liu, Xiaodong Bai, Alicia Hawes, Evan Maxwell, Lauren Gurski, Kyoko Watanabe, Jack A. Kosmicki, Veera Rajagopal, Jason Mighty, Regeneron Genetics Center, DiscovEHR, Marcus Jones, Lyndon Mitnaul, Eli Stahl, Giovanni Coppola, Eric Jorgenson, Lukas Habegger, William J. Salerno, Alan R. Shuldiner, Luca A. Lotta, John D. Overton, Michael N. Cantor, Jeffrey G. Reid, George Yancopoulos, Hyun M. Kang, Jonathan Marchini, Aris Baras, Gonçalo R. Abecasis & Manuel A. Ferreira -Show fewer authors
Nature (2021)

https://www.nature.com/articles/s41586-021-04103-z

seems to be an incredible data set – 450K exomes!

Posted in SciLit | Leave a Comment »
Tags: , , ,

interesting gene showing partial penetrance (Genome Web)

October 24, 2021

https://www.genomeweb.com/sequencing/uk-biobank-study-investigates-incomplete-penetrance-mendelian-disease-variants

UK Biobank Study Investigates Incomplete Penetrance of Mendelian Disease Variants

Oct 21, 2021 | Julia Karow

Remove from my reading list

NEW YORK – Recessive Mendelian disorders are caused by mutations in both copies of a gene, but heterozygous carriers can sometimes also show mild phenotypes.

To study such incomplete penetrance of disease variants in greater detail, researchers have analyzed genetic data from the UK Biobank.

…

Posted in - | Leave a Comment »
Tags: , , , ,

What Happens When You Put 500,000 People’s DNA Online – The Atlantic

December 3, 2017

What Happens When You Put 500,000 People’s DNA Online
https://www.theAtlantic.com/science/archive/2017/11/what-happens-when-you-put-500000-peoples-dna-online/543747/ Goes over @UK_BioBank’s big effort to put out the data without preferential access & also the great excitement for rapid
dissemination via preprint servers such as @bioRxivPreprint

Posted in - | Leave a Comment »
Tags: , , ,

BGENIE – Marchini Research Group

October 21, 2017

https://jmarchini.org/bgenie/

Posted in - | Leave a Comment »
Tags: , , ,

Oxford BIG

October 21, 2017

http://big.stats.ox.ac.uk/

Posted in - | Leave a Comment »
Tags: , , ,

Global Biobank Engine

October 21, 2017

https://biobankengine.stanford.edu/

Posted in - | Leave a Comment »
Tags: , , ,

what is heritability

October 6, 2017

Heritability 501: LDSR-based H2…for the technically minded
http://www.NealeLab.is/blog/2017/9/14/heritability-501-ldsr-based-h2-in-ukbb-for-the-technically-minded Nice overview by @BMNeale lab HT @Sushant211

Nice blog post series explaining heritability.

http://www.nealelab.is/blog/2017/9/13/heritability-101-what-is-heritability

http://www.nealelab.is/blog/2017/9/13/heritability-201-types-of-heritability-and-how-we-estimate-it

http://www.nealelab.is/blog/2017/9/14/heritability-501-ldsr-based-h2-in-ukbb-for-the-technically-minded

Posted in - | Leave a Comment »
Tags: , ,