#ClinVar

Javier Santoyo

@jsantoyo.bsky.social

8 months ago

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...

@deciphergenomics.bsky.social

8 months ago

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.

BF Francis Ouellette

@bffo.bsky.social

9 months ago

NCBI ALFA Release 4 Now Available - NCBI Insights Doubled cohort size to 409K We are thrilled to announce the NCBI Allele Frequency Aggregator (ALFA) Release 4 (R4), a leap forward in providing comprehensive and robust allele frequency information to...

From #NCBI Insight | Allele Frequency Aggregator (ALFA) Release 4 (R4) now available from NCBI | #Bioinformatics #Genomics #OpenScience #OpenData #ClinVar 🧬 🖥️ 🧪 🔓
⬇️
ncbiinsights.ncbi.nlm.nih.gov/2025/06/09/n...

Genetics in Medicine

@gimjournal.bsky.social

10 months ago

Analyzing genes constrained for LoF/Ms, Ms, and LoF variants in #gnomAD reveals their unique functional associations and links to #Mendelian disorders #HGMD #ClinVar bit.ly/43awIFE

BF Francis Ouellette

@bffo.bsky.social

10 months ago

VarGuideAtlas: a repository of variant interpretation guidelines Abstract. Variant interpretation guidelines guide the process of determining the role of DNA variants in patients’ health. Currently, hundreds of guideline

From #OUP 's #DATABASE journal | VarGuideAtlas: a repository of variant interpretation guidelines | #OpenScience #Bioinformatics #Genomics #ClinVar #ClinGen
🧬 🖥️ 🧪 🔓
⬇️
academic.oup.com/database/art...

@newswise.bsky.social

11 months ago

New AI Model Predicts Gene Variants’ Effects on Specific Diseases
www.newswise.com/articles/new...
#siameseneuralnetwork #cardiomyopathy #arrhythmia #authoritative #PublicDataBase #ClinVar #github #genevariations #personalizedmedicine #genevariants

Javier Santoyo

@jsantoyo.bsky.social

1 year ago

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

ClinVar: updates to support classifications of both germline and somatic variants. #ClinVar #GeneticVariants #NAR 🧬 🖥️
academic.oup.com/nar/advance-...

Genome Aggregation Database (gnomAD)

@gnomad-project.bsky.social

1 year ago

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

Victor Chang Cardiac Research Institute

@victorchang.edu.au

5 years ago

#PaulKornerSeminar Presenter Andy Ng: "Great progress from @VandenbergJamie @lab_mcl developing a database of KCNH2 variants phenotyped by #SyncroPatch 384PE to help classification of variants in #ClinVar and any future variants identified by @AusGenomics #longQT

Victor Chang Cardiac Research Institute

@victorchang.edu.au

5 years ago

#PaulKornerSeminar Presenter Andy Ng: "Great progress from @VandenbergJamie @lab_mcl developing a database of KCNH2 variants phenotyped by #SyncroPatch 384PE to help classification of variants in #ClinVar and any future variants identified by @AusGenomics #longQT

Martin Smith

@martinalexsmith.bsky.social

7 years ago

Prof Amanda Spurdle presenting Australia's clinically curated variant sharing platform: 'Shariant'. It has a chat room for variant curation and discordance resolution! Will integrate with #ClinVar API when available. National launch scheduled for June 2019 @AusGenomics #AACGS18