GREGoR Consortium

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GREGoR Consortium

GREGoR Consortium

@GREGoR_research

Discovering causes of rare disease through innovative technology and vigorous collaboration. @NIH-funded. Tweets by Data Coordinating Center @UWBiostat.

USA Katılım Ekim 2021
442 Takip Edilen893 Takipçiler
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GREGoR Consortium
GREGoR Consortium@GREGoR_research·
New in @Nature! “GREGoR: Accelerating Genomics for Rare Diseases” highlights how the GREGoR Consortium is advancing rare disease discovery through data sharing, multi-omics, and next-gen sequencing across 7,500 individuals in 3,000+ families. 🧬nature.com/articles/s4158…
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UCSC Genome Browser
UCSC Genome Browser@GenomeBrowser·
We are excited to announce the release of the Human Methylation Atlas Summary and Signals tracks for hg38 and hg19. The tracks display genome-wide DNA methylation profiles across 39 primary human cell types from 205 healthy tissue samples. Learn more at bit.ly/humanMethylati…
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GREGoR Consortium
GREGoR Consortium@GREGoR_research·
This Rare Disease Day 🧬, we share how GREGoR 🫛 bridges the diagnostic gap in rare disease by developing and applying cutting-edge technologies to discover the causes of unsolved genetic disorders and sharing data to accelerate discovery. 🎯 #GREGoR #NIHResearch #RareDisease
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Fritz Sedlazeck
Fritz Sedlazeck@sedlazeck·
Excited to visit @viennabiocenter on March 10th to present our lates findings of Constellation/TruPath @illumina ! I did the PhD there so hopefully I can still find some familiar faces :) . I will talk about the application to rare diseases cases @BCM_HGSC @GREGoR_research
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GREGoR Consortium
GREGoR Consortium@GREGoR_research·
Learn about how the Genetic Analysis Center (GAC), as the GREGoR Data Coordinating Center, at the University of Washington is contributing to the Consortium's efforts to develop and apply approaches to discover the cause of currently unexplained rare genetic disorders.
UW Biostatistics@UWBiostat

As the Data Coordinating Center for the GREGoR Consortium (@GREGoR_research), UW's Genetic Analysis Center plays a key role in efforts aimed at discovering the cause of currently unexplained rare genetic diseases. bit.ly/3M5f8NS

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ASHG
ASHG@GeneticsSociety·
🔬New insights into mosaic variants! Join @sedlazeck on Feb 18 for our Bioinformatics & Computational Methods Shared Interest Group webinar, showcasing his recent work on mosaic structural variants and tandem repeat mutations. Register now: bit.ly/4twzws6 #ASHG
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ELSIhub | CERA
ELSIhub | CERA@ELSIhub·
Rare diseases can’t be evaluated in traditional clinical trials - while new pathways to approval for broader populations are underway, new ethical issues must be considered. Join us on February 13th for the #ELSIFridayForum , “JustCRISPR” Register: addevent.com/event/8lglq4pq…
ELSIhub | CERA tweet mediaELSIhub | CERA tweet mediaELSIhub | CERA tweet mediaELSIhub | CERA tweet media
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ASHG
ASHG@GeneticsSociety·
Happening tomorrow at 11am U.S. ET! See you there: learning.ashg.org/products/digit…
PacBio@PacBio

Join #PacBio for an #ASHG Digital CoLab on how long read sequencing uncovers structural variants linked to disease. Hear insights from All of Us data and how HiFi WGS supports population scale analysis. Live for ASHG members. On demand later. Register: bit.ly/3Nh1G9T

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ASHG
ASHG@GeneticsSociety·
The #DNADay26 Essay Contest is HERE! 🧬This year’s challenge: Analyze a genetic treatment or therapy developed or widely used in recent years. Teachers—help your students share their ideas with the world! Submit by March 4 👉 ashg.org/dna-day/ #ASHG
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zeynep coban akdemir
zeynep coban akdemir@zcoban·
Excited to share a genome-wide analysis of pathogenic truncating variants that escape nonsense-mediated decay (NMD) that may produce truncated and/or altered protein tails that disrupt condensate behavior contributing to human disease. medrxiv.org/content/10.648… Please check ⬇️
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Keşfet

@viennabiocenter @illumina @BCM_HGSC @DanielGCalame @jessemaurica @bcmhouston @AJHGNews @TexasChildrens