Wie geil ist eigentlich Humangenetik? 😍
*taucht ab ins ClinVar-Rabbithole*
*taucht ab ins ClinVar-Rabbithole*
March 13, 2024 at 1:58 PM
Wie geil ist eigentlich Humangenetik? 😍
*taucht ab ins ClinVar-Rabbithole*
*taucht ab ins ClinVar-Rabbithole*
ClinVar: updates to support classifications of both germline and somatic variants. #ClinVar #GeneticVariants #NAR 🧬 🖥️
academic.oup.com/nar/advance-...
academic.oup.com/nar/advance-...
ClinVar: updates to support classifications of both germline and somatic variants
Abstract. ClinVar (www.ncbi.nlm.nih.gov/clinvar/) is a free, public database of human genetic variants and their relationships to disease, with >3 milli
academic.oup.com
November 24, 2024 at 10:19 PM
ClinVar: updates to support classifications of both germline and somatic variants. #ClinVar #GeneticVariants #NAR 🧬 🖥️
academic.oup.com/nar/advance-...
academic.oup.com/nar/advance-...
Just updated this figure for 2025. There are now over 1 million missense Variants of Uncertain Significance in Clinvar!
January 24, 2025 at 9:08 PM
Just updated this figure for 2025. There are now over 1 million missense Variants of Uncertain Significance in Clinvar!
Cool update in Ensembl VEP (release 115):
You can now annotate structural variants with @gnomad-project.bsky.social allele frequencies AND ClinVar clinical significance
Perfect for filtering & interpreting SVs!
More info on our blog (zurl.co/3lZjy)
#genomics #bioinformatics
You can now annotate structural variants with @gnomad-project.bsky.social allele frequencies AND ClinVar clinical significance
Perfect for filtering & interpreting SVs!
More info on our blog (zurl.co/3lZjy)
#genomics #bioinformatics
Cool stuff Ensembl VEP can do: annotate structural variants with gnomAD allele frequencies and ClinVar clinical significance – Ensembl Blog
zurl.co
October 10, 2025 at 1:55 PM
Cool update in Ensembl VEP (release 115):
You can now annotate structural variants with @gnomad-project.bsky.social allele frequencies AND ClinVar clinical significance
Perfect for filtering & interpreting SVs!
More info on our blog (zurl.co/3lZjy)
#genomics #bioinformatics
You can now annotate structural variants with @gnomad-project.bsky.social allele frequencies AND ClinVar clinical significance
Perfect for filtering & interpreting SVs!
More info on our blog (zurl.co/3lZjy)
#genomics #bioinformatics
In summary, based on allele frequency mostly - we classify this as a benign variant. The ClinVar assertion should be up in coming days. Thanks to Alicia Byrne for help with this! ncbi.nlm.nih.gov/clinvar/vari...
National Center for Biotechnology InformationTwitterFacebookLinkedInGitHubNCBI Insights BlogTwitterFacebookYoutube
ncbi.nlm.nih.gov
March 5, 2025 at 6:08 AM
In summary, based on allele frequency mostly - we classify this as a benign variant. The ClinVar assertion should be up in coming days. Thanks to Alicia Byrne for help with this! ncbi.nlm.nih.gov/clinvar/vari...
Additionally, the functional evidence for 275 SCN5A variants from our recent SCN5A automated patch-clamp study is now accessible in ClinVar.
A nice editorial about our recent SCN5A automated patch clamp paper. @chaiannng.bsky.social academic.oup.com/eurheartj/ad...
Reducing the variant of uncertain significance burden in inherited cardiac disorders: from variant to function to action?
This editorial refers to ‘Automated patch clamp data improve variant classification and penetrance stratification for SCN5A–Brugada syndrome’, by M.J. O’Ne
academic.oup.com
January 21, 2026 at 10:15 PM
Additionally, the functional evidence for 275 SCN5A variants from our recent SCN5A automated patch-clamp study is now accessible in ClinVar.
Excited to share our MPAC preprint, a scalable ensemble of ML models for genome-wide non-coding variant effect prediction and our findings from 575M predictions across databases including @ukbiobank.bsky.social, GTEx, ClinVar, COSMIC, and @gnomad-project.bsky.social
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
| bioRxiv
bioRxiv - the preprint server for biology, operated by Cold Spring Harbor Laboratory, a research and educational institution
https://www.biorxiv.org/content/10.1101/2025.04.16.648420v1\
April 23, 2025 at 5:28 PM
Excited to share our MPAC preprint, a scalable ensemble of ML models for genome-wide non-coding variant effect prediction and our findings from 575M predictions across databases including @ukbiobank.bsky.social, GTEx, ClinVar, COSMIC, and @gnomad-project.bsky.social
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
ClinVar's recent update now includes somatic variants classified for cancer significance, aiding oncology clinicians in better understanding a patient's cancer type and optimizing therapy decisions. 🩺 🧬🖥️
ClinVar Helps the Fight Against Cancer, One Variant at a Time
ClinVar is a public archive that supports the clinical genetics community and cancer research. NLM recently updated ClinVar to improve somatic variant submissions, which can lead to better diagnost…
nlmdirector.nlm.nih.gov
October 3, 2024 at 3:36 PM
ClinVar's recent update now includes somatic variants classified for cancer significance, aiding oncology clinicians in better understanding a patient's cancer type and optimizing therapy decisions. 🩺 🧬🖥️
I’d love to see ClinVar variants mapped on to these TF-TF binding sites.
June 1, 2025 at 5:09 PM
I’d love to see ClinVar variants mapped on to these TF-TF binding sites.
The pathogenicity of DECIPHER and ClinVar variants are now displayed in bold on variant and protein variant pages to make it clearer if the variant has been classified as being pathogenic or benign
March 21, 2025 at 12:19 PM
The pathogenicity of DECIPHER and ClinVar variants are now displayed in bold on variant and protein variant pages to make it clearer if the variant has been classified as being pathogenic or benign
DECIPHER and #clinvar variants with a predicted molecular consequence of splice_donor_region_variant and splice_polypyrimidine_tract_variant are now displayed on the protein browser. These are displayed as pink triangles.
June 18, 2025 at 2:26 PM
DECIPHER and #clinvar variants with a predicted molecular consequence of splice_donor_region_variant and splice_polypyrimidine_tract_variant are now displayed on the protein browser. These are displayed as pink triangles.
Using large-scale population-based data to improve disease risk assessment of clinical variants. #GeneticVariants #ClinVar #DiseaseRiskVariants #Genomics @natgenet.nature.com
www.nature.com/articles/s41...
www.nature.com/articles/s41...
June 25, 2025 at 7:05 PM
Using large-scale population-based data to improve disease risk assessment of clinical variants. #GeneticVariants #ClinVar #DiseaseRiskVariants #Genomics @natgenet.nature.com
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Genotype-First Analysis in an Unselected Health System–Based Population and Phenotypic Severity of COL4A5 Variants.
tl;dr The spectrum of kidney disease in those with COL4A5 variants is broad and under diagnosed. journals.lww.com/jasn/abstrac...
tl;dr The spectrum of kidney disease in those with COL4A5 variants is broad and under diagnosed. journals.lww.com/jasn/abstrac...
Genotype-First Analysis in an Unselected Health... : Journal of the American Society of Nephrology
udy, an unselected health system-based cohort with exome sequencing and electronic health records. Patients with COL4A5 variants reported as pathogenic or likely pathogenic in ClinVar, or protein-trun...
journals.lww.com
December 14, 2024 at 2:48 PM
Genotype-First Analysis in an Unselected Health System–Based Population and Phenotypic Severity of COL4A5 Variants.
tl;dr The spectrum of kidney disease in those with COL4A5 variants is broad and under diagnosed. journals.lww.com/jasn/abstrac...
tl;dr The spectrum of kidney disease in those with COL4A5 variants is broad and under diagnosed. journals.lww.com/jasn/abstrac...
Our disease-specific language model for variant pathogenicity in cardiac & regulatory genomics paper in out! www.nature.com/articles/s42... #genomics #genetics #cardiology #llms #artificialintelligence #bioinformatics
A disease-specific language model for variant pathogenicity in cardiac and regulatory genomics - Nature Machine Intelligence
DYNA fine-tunes genomic foundation models with disease specificity using a Siamese network. It generalizes to rare-variant test sets and replicates results in ClinVar, advancing variant effect predict...
www.nature.com
March 24, 2025 at 2:13 PM
Our disease-specific language model for variant pathogenicity in cardiac & regulatory genomics paper in out! www.nature.com/articles/s42... #genomics #genetics #cardiology #llms #artificialintelligence #bioinformatics
Here's to Day 1 of #ASHG25:
Started the week before everyone arrived with the #UCSC Genome Browser Workshop exploring ClinVar–HGMD overlap, HGVS nomenclature, and variant visualization.
Excited to continue Day 2 of this workshop and dive deeper into #ASHG25 week of genomics exploration! 🌍🧬
Started the week before everyone arrived with the #UCSC Genome Browser Workshop exploring ClinVar–HGMD overlap, HGVS nomenclature, and variant visualization.
Excited to continue Day 2 of this workshop and dive deeper into #ASHG25 week of genomics exploration! 🌍🧬
October 13, 2025 at 11:45 PM
Genotype-first approach for COL4A5 variants in the Geisinger Health System! Fresh on JASN!
@asnkidney.bsky.social #FSGS #Nephsky #Medsky #Alport
journals.lww.com/jasn/abstrac...
@asnkidney.bsky.social #FSGS #Nephsky #Medsky #Alport
journals.lww.com/jasn/abstrac...
Genotype-First Analysis in an Unselected Health... : Journal of the American Society of Nephrology
udy, an unselected health system-based cohort with exome sequencing and electronic health records. Patients with COL4A5 variants reported as pathogenic or likely pathogenic in ClinVar, or protein-trun...
journals.lww.com
December 13, 2024 at 2:41 PM
Genotype-first approach for COL4A5 variants in the Geisinger Health System! Fresh on JASN!
@asnkidney.bsky.social #FSGS #Nephsky #Medsky #Alport
journals.lww.com/jasn/abstrac...
@asnkidney.bsky.social #FSGS #Nephsky #Medsky #Alport
journals.lww.com/jasn/abstrac...
(3) ClinVar - inimfenotüüpide ja geenivariantide arhiiv, samuti väga kasulik geneetika tööriist
GTR ehk Genetic Testing Registry
Elements of Morphology
NHLBI ehk The National Heart, Lung, and Blood Institute
NCI ehk The National Cancer Institute
GTR ehk Genetic Testing Registry
Elements of Morphology
NHLBI ehk The National Heart, Lung, and Blood Institute
NCI ehk The National Cancer Institute
March 2, 2025 at 1:16 PM
(3) ClinVar - inimfenotüüpide ja geenivariantide arhiiv, samuti väga kasulik geneetika tööriist
GTR ehk Genetic Testing Registry
Elements of Morphology
NHLBI ehk The National Heart, Lung, and Blood Institute
NCI ehk The National Cancer Institute
GTR ehk Genetic Testing Registry
Elements of Morphology
NHLBI ehk The National Heart, Lung, and Blood Institute
NCI ehk The National Cancer Institute
Excited to share our latest study in
@nature.com We used a humanized-mouse ES cell model to explore the functional consequences of all possible BRCA2 missense variants. We've clinically classified >6,500 variants and >1,200 reported in ClinVar! www.nature.com/articles/s41...
@nature.com We used a humanized-mouse ES cell model to explore the functional consequences of all possible BRCA2 missense variants. We've clinically classified >6,500 variants and >1,200 reported in ClinVar! www.nature.com/articles/s41...
Saturation genome editing-based clinical classification of BRCA2 variants - Nature
CRISPR–Cas9-based saturation genome editing in a humanized mouse embryonic stem cell line was used for comprehensive functional characterization of single nucleotide variants in a region of BRCA2, and...
www.nature.com
January 9, 2025 at 1:52 AM
Excited to share our latest study in
@nature.com We used a humanized-mouse ES cell model to explore the functional consequences of all possible BRCA2 missense variants. We've clinically classified >6,500 variants and >1,200 reported in ClinVar! www.nature.com/articles/s41...
@nature.com We used a humanized-mouse ES cell model to explore the functional consequences of all possible BRCA2 missense variants. We've clinically classified >6,500 variants and >1,200 reported in ClinVar! www.nature.com/articles/s41...
Excited to share our @varianteffect.bsky.social CVI workstream preprint! Herein, we discuss important considerations for integration of multiplex functional data to generate a single score set and how this is likely to impact variant classification now and in the future
arxiv.org/abs/2503.18810
arxiv.org/abs/2503.18810
Combining multiplexed functional data to improve variant classification
With the surge in the number of variants of uncertain significance (VUS) reported in ClinVar in recent years, there is an imperative to resolve VUS at scale. Multiplexed assays of variant effect (MAVE...
arxiv.org
March 25, 2025 at 3:46 PM
Excited to share our @varianteffect.bsky.social CVI workstream preprint! Herein, we discuss important considerations for integration of multiplex functional data to generate a single score set and how this is likely to impact variant classification now and in the future
arxiv.org/abs/2503.18810
arxiv.org/abs/2503.18810
GeniE, the genetic prevalence estimator, is now available! broad.io/genie
This tool allows users to estimate the genetic prevalence of autosomal recessive diseases using #gnomAD allele frequency data & classifications from #ClinVar
Blog post: broad.io/genie_blog
This tool allows users to estimate the genetic prevalence of autosomal recessive diseases using #gnomAD allele frequency data & classifications from #ClinVar
Blog post: broad.io/genie_blog
June 4, 2024 at 4:44 PM
GeniE, the genetic prevalence estimator, is now available! broad.io/genie
This tool allows users to estimate the genetic prevalence of autosomal recessive diseases using #gnomAD allele frequency data & classifications from #ClinVar
Blog post: broad.io/genie_blog
This tool allows users to estimate the genetic prevalence of autosomal recessive diseases using #gnomAD allele frequency data & classifications from #ClinVar
Blog post: broad.io/genie_blog
ClinVar at risk too..
February 1, 2025 at 11:12 AM
ClinVar at risk too..
www.ncbi.nlm.nih.gov
pubmed.ncbi.nlm.nih.gov
www.ncbi.nlm.nih.gov/books/
pmc.ncbi.nlm.nih.gov/articles/
www.ncbi.nlm.nih.gov/nlmcatalog/j...
www.ncbi.nlm.nih.gov/pmc/
www.ncbi.nlm.nih.gov/pmc/?db=PMC
www.ncbi.nlm.nih.gov/pmc/advanced/
elementsofmorphology.nih.gov
www.ncbi.nlm.nih.gov/clinvar/
pubmed.ncbi.nlm.nih.gov
www.ncbi.nlm.nih.gov/books/
pmc.ncbi.nlm.nih.gov/articles/
www.ncbi.nlm.nih.gov/nlmcatalog/j...
www.ncbi.nlm.nih.gov/pmc/
www.ncbi.nlm.nih.gov/pmc/?db=PMC
www.ncbi.nlm.nih.gov/pmc/advanced/
elementsofmorphology.nih.gov
www.ncbi.nlm.nih.gov/clinvar/
March 2, 2025 at 2:20 PM
🌟 On the 6th day of #OpenCRAVAT, my database gave to me…Six Gene-Level Insights!
Which insight is most valuable for your research? CHASMplus, REVEL, PolyPhen-2, @gnomad-project.bsky.social, ClinVar, or COSMIC?
Explore OpenCRAVAT at opencravat.org
#Genomics #VariantAnalysis #OpenCRAVAT 🧬 🖥️
Which insight is most valuable for your research? CHASMplus, REVEL, PolyPhen-2, @gnomad-project.bsky.social, ClinVar, or COSMIC?
Explore OpenCRAVAT at opencravat.org
#Genomics #VariantAnalysis #OpenCRAVAT 🧬 🖥️
December 7, 2024 at 3:45 AM
🌟 On the 6th day of #OpenCRAVAT, my database gave to me…Six Gene-Level Insights!
Which insight is most valuable for your research? CHASMplus, REVEL, PolyPhen-2, @gnomad-project.bsky.social, ClinVar, or COSMIC?
Explore OpenCRAVAT at opencravat.org
#Genomics #VariantAnalysis #OpenCRAVAT 🧬 🖥️
Which insight is most valuable for your research? CHASMplus, REVEL, PolyPhen-2, @gnomad-project.bsky.social, ClinVar, or COSMIC?
Explore OpenCRAVAT at opencravat.org
#Genomics #VariantAnalysis #OpenCRAVAT 🧬 🖥️