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Ben Weisburd proslijedio/la je Tweet
saw some folks yelling eugenics for
@geochurch dating app. Let's stop the knee jerk reaction for a moment and think about it
.
1. It is not eugenics. This dating app does not drive alleles to extinction. In fact, if successful, disease allele should evade negative selection
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Ben Weisburd proslijedio/la je Tweet
Thrilled to announce the release of gnomAD v3, a catalogue of 700M genetics variants based on WGS from 71k samples! It is our first release mapped to GRCh38 and represents a massive leap in analysis power for all non-coding analysis using gnomAD.pic.twitter.com/4gm6IOEK3d
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Ben Weisburd proslijedio/la je Tweet
Are you at
#ASHG19 and interested in doing cutting-edge population-scale human genomics in sunny Australia? Then we have a lot to talk about. Drop me a line - my DMs are open.Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Ben Weisburd proslijedio/la je Tweet
Very excited to share this preprint with the community! Code for reproducing figures and analyses is available at https://git.io/Jec25 and https://git.io/Jec2d , and data
@GTExPortal.https://twitter.com/tuuliel/status/1179793319016173569 …
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Ben Weisburd proslijedio/la je Tweet
Our new lab in
@broadinstitute@StanleyCenter is hiring! Come join our patient-driven mission to develop drugs for prion disease in our lifetime. Seeking a postdoc https://g.co/kgs/JLT7RB and research associate https://g.co/kgs/9oG9qH — help us prevent neurodegeneration!Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Ben Weisburd proslijedio/la je Tweet
We annotated 31,510 multi-nucleotide variants (MNVs) in gnomAD exome dataset, including 405 gain of nonsense, 1,818 rescue of nonsense mutation, and >16,000 more MNVs predicted to alter protein sequences. This allowed us to evaluate the impact of MNV at population level. (2/4)pic.twitter.com/1Ibd0qLwtI
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Ben Weisburd proslijedio/la je Tweet
Our new gnomAD companion preprint, on the importance of transcript expression for interpretation. In gnomAD we see variants we don't expect (e.g. in haploinsufficient disease genes). Often found on alternative txs, with little evidence of expression 1/4https://bit.ly/2SM7pr1
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Ben Weisburd proslijedio/la je Tweet
Want to use RNA-seq to diagnose rare disease patients? Read this post by
@beryl_bbc before you start: https://macarthurlab.org/2017/05/31/improving-genetic-diagnosis-in-mendelian-disease-with-transcriptome-sequencing-a-walk-through/ …pic.twitter.com/tne7wLCRgC
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Ben Weisburd proslijedio/la je Tweet
Congrats to grad student
@beryl_bbc on her first paper! Using RNA-seq to improve diagnosis for rare muscle disease: http://stm.sciencemag.org/content/9/386/eaal5209 …pic.twitter.com/uJApV8CFDz
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Ben Weisburd proslijedio/la je Tweet
A visualization of chaos: 41 triple pendulums with very slightly different initial conditionspic.twitter.com/CTiABFVWHW
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Ben Weisburd proslijedio/la je Tweet
The long-awaited gnomAD VCF is here - sites + frequencies for 123,136 exomes and 15,496 genomes: https://macarthurlab.org/2017/02/27/the-genome-aggregation-database-gnomad/ …pic.twitter.com/sxKOEVFDml
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Ben Weisburd proslijedio/la je Tweet
Learn how the Broad Institute used
#ApacheSpark for genomics! My favorite talk from Spark Summit East.https://www.youtube.com/watch?v=6WoPZ3_nIXc&feature=youtu.be …Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Ben Weisburd proslijedio/la je Tweet
The ExAC Browser: Displaying reference data information from over 60,000 exomes http://biorxiv.org/cgi/content/short/070581v1 …
#biorxiv_genomicHvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Ben Weisburd proslijedio/la je Tweet
I'm delighted to announce the (open access) publication of the ExAC paper in Nature:http://www.nature.com/nature/journal/v536/n7616/full/nature19057.html …
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Ben Weisburd proslijedio/la je Tweet
igv.js 1.0.0 has been released. Get the JavaScript & CSS files here: http://bit.ly/1WCivK4 See more info here:http://bit.ly/1VEiAwh
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Ben Weisburd proslijedio/la je Tweet
PubMed Commons comment by
@cureffi and me about that "new MS gene" paper: http://www.ncbi.nlm.nih.gov/pubmed/27253448#cm27253448_16159 … Basically, there's no way this is real.Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Ben Weisburd proslijedio/la je Tweet
Received notice today that my F31 will be funded. Thank you,
@NIH. I am so, so, SO excited to do this science.pic.twitter.com/fP93v6KYWE
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Ben Weisburd proslijedio/la je Tweet
“She's so resourceful, she could start a lab on a desert island.” Gr8 quote on Emmanuelle Charpentier
@NatureNewshttp://www.nature.com/news/the-quiet-revolutionary-how-the-co-discovery-of-crispr-explosively-changed-emmanuelle-charpentier-s-life-1.19814 …Hvala. Twitter će to iskoristiti za poboljšanje vaše vremenske crte. PoništiPoništi -
Ben Weisburd proslijedio/la je Tweet
We’ve released the code so you can reproduce all the figures in the ExAC paper. Here’s how to do it:http://macarthurlab.org/2016/03/17/reproduce-all-the-figures-a-users-guide-to-exac-part-2/ …
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Ben Weisburd proslijedio/la je Tweet
Happy to share the code to reproduce all the figures in ExAC! http://macarthurlab.org/2016/03/17/reproduce-all-the-figures-a-users-guide-to-exac-part-2 … - Github repo here:https://github.com/macarthur-lab/exac_2015 …
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