@Geno2MP

The Genotype 2 Mendelian Phenotype database shares rare genetic variants linked with phenotypic info to facilitate #raredisease gene discovery

 Seattle, WA
geno2mp.gs.washington.edu
Joined March 2015
  • Tweets31
  • Following4
  • Followers77
Major update today w/data from UW & Broad CMGs. Now sharing rare variant + HPO terms from ~18,000 individuals with rare conditions + presumed-unaffected relatives! Sites-only VCF also shares counts of aff/unaff individuals by genotype for each variant #datasharing #raredisease
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We’ve hit a bit of a milestone with today’s update! Rare variants & broad HPO profiles for >10,000 individuals from families with rare genetic conditions now shared publicly in @Geno2MP
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We just updated @Geno2MP to share rare variants linked to broad phenotypic information from almost 10K individuals with Mendelian phenotypes and/or their relatives!
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Advice to users seeking case details: include phenotypic info in your inquiry. Investigators in Geno2MP already sharing, you should too! xitter.cf/Geno2MP/status/9265649…
Geno2MP@Geno2MP3 Nov 2017
Added ~500 more samples to Geno2MP today! Now openly sharing rare variants + broad phenotype found in 7531 rare disease families! #opendata
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Added ~500 more samples to Geno2MP today! Now openly sharing rare variants + broad phenotype found in 7531 rare disease families! #opendata
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This would also affect @Geno2MP and @MyGene2 users xitter.cf/dgmacarthur/status/917…
Daniel MacArthur
@dgmacarthur10 Oct 2017
ExAC/gnomAD users - NIH proposed new data sharing rules that may affect you. Please read + consider responding: macarthurlab.org/2017/10/10/…
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New update! @Geno2MP database now contains rare variants from 7,016 individuals with #RareDisease and their relatives. Happy researching!
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Check it out: @Geno2MP is a tool created by @UWCMG to share data and it’s part of an excellent tool MARRVEL just published in AJHG! xitter.cf/mfwangler/status/86271…
Michael Wangler
@mfwangler11 May 2017
Congratulations to stellar MD/PhD student @julawang and our @UDNconnect team for the MARRVEL paper cell.com/ajhg/fulltext/S0002…
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denovo-db version 1.3 is online now! Check it out at denovo-db.gs.washington.edu/… #denovo #genomics #bioinformatics
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Geno2MP retweeted
UW-CMG@UWCMG17 Mar 2017
Applications open for our 5th annual Mendelian analysis workshop w/@aaronquinlan @brent_p & @UWCMG Analysis Group! bit.ly/uwcmgworkshop
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We’ve updated Geno2MP: it now has rare variants linked to phenotypes from total 6,660 individuals with rare disease and their relatives!
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We’ve updated Geno2MP with data from ~300 more samples from @UWCMG! Interested in contributing your own data? Let us know!
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Geno2MP retweeted
UW-CMG@UWCMG10 Oct 2016
Just in time for #ASHG16: we updated @Geno2MP with variant data and @hp_ontology phenotypes from 500+ families with rare genetic conditions
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Dear clinical scientists, @NEJM. THIS is how you make scientific progress: shared data, not silos. @VinayPrasad82 xitter.cf/dgmacarthur/status/765…
Daniel MacArthur
@dgmacarthur17 Aug 2016
Nature editorial uses ExAC to argue for greater sharing of genetic and clinical data: nature.com/news/exac-project…
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New features available! You can direct link to variants in Geno2MP by URL and send contact messages to original sample submitters
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Replying to @mfwangler
Glad you’re finding Geno2MP useful @mfwangler! What info would you like to see in a @GenomeBrowser track?
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A fresh reminder that collaboration and data sharing is what enable us to stand on shoulders of giants #ICHG2016 xitter.cf/GenomeBiology/status/7…
Genome Biology@GenomeBiology4 Apr 2016
Eric Lander: "we really do take it for granted that the original human genome sequence was made publicly available" #ICHG2016 #openaccess
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#AGBT16 DN: Geno2MP database with rare variants, linked to broad phenotypes, effort to share data for better understanding
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New version of Gemini has @Geno2MP support. We're hoping to release even more useful data through @Geno2MP in future xitter.cf/aaronquinlan/status/69… – at Seattle, WA
Aaron Quinlan@aaronquinlan5 Feb 2016
We just released v0.18.1 of GEMINI. We are working hard on support for GRCh38 and other species. Stay tuned. gemini.readthedocs.org/en/la…
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