#gnomAD

Does anyone out there know the best way to annotate DNA variants with data on how many individuals are homozygous for that variant in the #gnomAD database? @OpenAcademics

We are recruiting a DevOps/Site Reliability Engineer to work on lots of cool projects (#gnomAD, @ClinGenResource, https://t.co/NIIRRHLkma, https://t.co/j6bBBzx15e) within our Translational Genomics Group https://t.co/i0pm8HCPHd  Apply here  https://t.co/6ABtzGcyYn https://t.co/gw2PQp1Ulx

We are recruiting a DevOps/Site Reliability Engineer to work on lots of cool projects (#gnomAD, @ClinGenResource, https://t.co/NIIRRHLkma, https://t.co/j6bBBzx15e) within our Translational Genomics Group https://t.co/i0pm8HCPHd Apply here https://t.co/6ABtzGcyYn https://t.co/gw2PQp1Ulx

@dudutchy How does this handle multiallelic rsIDs? It's been an issue for me before at the smaller scale when trying to intersect #gnomAD variants from a gene-level download with other outside annotations. #bionformatics #Genetics cc. @crankysparrow

Quoted @AxelVisel

Finally out: The ENCODE 3 package of papers! 4,834 human and 1,158 mouse data sets, >1M candidate cis-reg elements – the consortium paper gives an overview of the dizzying vastness of the data https://t.co/XiWw0RIfNI https://t.co/i8V6i1d63n

Say what you will about 2020, but we’ve seen massive collections and databases published in open access this year. #PCAWG in February, #gnomAD in May, and now #ENCODE has a new massive release? Amazing efforts, invaluable resources, open #science for all. https://t.co/v3VdaLkGcB

CannaLab
2 months ago

Quoted @ahoischen

1/7 TLR7 loss-of-functions mutations can lead to an immunodeficiency with a strong predisposition to develop a severe form of COVID-19 in young male patients. https://t.co/QuXnQsVecp

The first of many COVID-revealed IEIs. I bet it's real with a #gnomad probability of Loss-of-function intolerance = 0.98. Congrats @ahoischen et al. https://t.co/C1Mj47SIVq

Reading about #gnomAD and the variation in the human genome has me wondering how many pLoF variants I have 🤔 #phdchat #phdthoughts #askascientist #humangenome

Collins et al. 2020 recently #published a reference of sequence resolved-structural variants generated from nearly 15,000 genomes (54% non-Europeans) in #gnomAD, including data from another #SFARI cohort, the Simons Simplex Collection. https://t.co/uFmhZlcGr6 https://t.co/uyg7JxlhZX

Collins et al. 2020 recently #published a reference of sequence resolved-structural variants generated from nearly 15,000 genomes (54% non-Europeans) in #gnomAD, including data from another #SFARI cohort, the Simons Simplex Collection. https://t.co/uFmhZlcGr6 https://t.co/uyg7JxlhZX

@DenglerUwe @EllieMcDonagh @AdamRutherford @genome_gov @kennethbaillie @ewanbirney Amazing indeed! More amazing what was yet to come: HapMap, #1000Genomes, UK 10K, #ExAC, #gnomAD, cancer genomes, let alone projects such mouse strain sequencing or more recent #TreeofLife w/ @sangertol @darwintreelife. 🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬🧬

Looking at a gene in #gnomAD where the whole gene is 'segdup' thanks to pseudogene paralog. Any ideas for how I can parse out a set of true/higher confidence variants? Or otherwise look at this data? @konradjk @dgmacarthur @theFourier2k @gatk_dev #genetics #bioinformatics

Quoted @Spectrum

This massive genomic database helps decode mutations’ effects, reports @chloewilliamscc #SpectrumToolbox https://t.co/HAql2F6rUI https://t.co/1K1plNe31n

This massive genomic database helps decode mutations’ effects, reports @chloewilliamscc #SpectrumToolbox https://t.co/HAql2F6rUI https://t.co/1K1plNe31n

Great writeup on #gnomAD by @chloewilliamscc for @Spectrum. Thanks for the excellent summary! https://t.co/s5Q8nYkp8N

Quoted @EmmanuelNaouri

Genetic database provides rare disease clues and Parkinson's hope #parkinson #genome #genomics #dna https://t.co/YNN7aCzBPx

"The team used [gnomAD] to show #LRRK2 LoF variants do not lead to severe organ dysfunction in humans. This is promising news for Parkinson's disease patients and for drug companies [...]" #gnomad #genomics #Parkinsons https://t.co/3QvLdwRBvj

"La mayor biblioteca pública de variación genética humana" #gnomAD #ExAC https://t.co/u0kpp8LIPp

@alex_moerseburg The answer is yes. Visit the #gnomAD browser v2.1.1 https://t.co/c7tkAR4FSO - enter a gene and from the left hand side expand 'Show tissues'

https://t.co/PlLdHkPhTA The #gnomAD consortium presents "pext"- this metric indicates whether a predicted loss-of-function variant (or any consequence) is located in the exons that are actually expressed in vivo in #GTEx.

A genetic database has given researchers hope for a new #Parkinsons treatment. Find out more: https://t.co/s0S3Zo68Ec @imperialcollege @nickywhiffin #gnomAD https://t.co/xPQDQeOOVD

A genetic database has given researchers hope for a new #Parkinsons treatment. Find out more: https://t.co/s0S3Zo68Ec @imperialcollege @nickywhiffin #gnomAD https://t.co/xPQDQeOOVD

Using WES data researchers assessed #PGX variants with potential clinical relevance and compared predominantly European Caucasian ancestry DiscovEHR cohort with @1000genomes dataset, @pharmgkb -CPIC gene-specific tables and different #gnomAD populations https://t.co/vCBUek4sPo

An
3 months ago

Belgian startup @BioStrandBV raises €2 million to disrupt genetic data analysis - https://t.co/SUMIfsAcjJ via @tech_eu #genetics #bigdata #gnomAD #BeHealth

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