The availability of episignatures from #EpiSign are now displayed on gene pages and therapy tabs. Episignatures provide functional evidence to support variant interpretation and disease classification #RareDisease #VariantClassification
July 10, 2026 at 10:00 AM
The availability of episignatures from #EpiSign are now displayed on gene pages and therapy tabs. Episignatures provide functional evidence to support variant interpretation and disease classification #RareDisease #VariantClassification
Integrating RNA analysis with clinical exome sequencing could resolve over 5% of uncertain variants, significantly boosting diagnostic accuracy for rare disease patients. bit.ly/4lgjsH8 #GIMO #ExomeSequencing #RareDisease #RNA #VariantClassification
March 6, 2026 at 11:53 PM
Integrating RNA analysis with clinical exome sequencing could resolve over 5% of uncertain variants, significantly boosting diagnostic accuracy for rare disease patients. bit.ly/4lgjsH8 #GIMO #ExomeSequencing #RareDisease #RNA #VariantClassification
To report or not to report? The utilization of #VUS subclasses & the development of subclass-specific professional guidance are crucial for improving patient diagnosis and resource utilization bit.ly/44eexA7 #variantclassification #reclassification @heidirehm.bsky.social
April 18, 2025 at 11:28 PM
To report or not to report? The utilization of #VUS subclasses & the development of subclass-specific professional guidance are crucial for improving patient diagnosis and resource utilization bit.ly/44eexA7 #variantclassification #reclassification @heidirehm.bsky.social
Regional Nonsense Constraint data, evidence of intolerance to premature stop codons in the context of nonsense-mediated decay, is displayed as a track in the genome browser #RareDisease #VariantClassification @gnomad-project.bsky.social
July 10, 2026 at 9:59 AM
Regional Nonsense Constraint data, evidence of intolerance to premature stop codons in the context of nonsense-mediated decay, is displayed as a track in the genome browser #RareDisease #VariantClassification @gnomad-project.bsky.social
Excellent meeting at #ESHG2026 Gothenburg. The gap between detection and interpretation remains one of the biggest challenges.
The convergence of genetics and cell biology is producing answers that directly impact patients.
🧬 #ESHG2026 #FunctionalGenomics #VariantClassification #RareDiseases
The convergence of genetics and cell biology is producing answers that directly impact patients.
🧬 #ESHG2026 #FunctionalGenomics #VariantClassification #RareDiseases
June 29, 2026 at 5:55 PM
Excellent meeting at #ESHG2026 Gothenburg. The gap between detection and interpretation remains one of the biggest challenges.
The convergence of genetics and cell biology is producing answers that directly impact patients.
🧬 #ESHG2026 #FunctionalGenomics #VariantClassification #RareDiseases
The convergence of genetics and cell biology is producing answers that directly impact patients.
🧬 #ESHG2026 #FunctionalGenomics #VariantClassification #RareDiseases
NMD predictions have been updated. The first 200bp of coding nucleotides on the protein browser are now highlighted as predicted to escape the NMD - 100-200bp is shaded in light grey to reflect the evidence of gradual decrease in NMD inhibition in this region #VariantClassification
July 10, 2026 at 10:01 AM
NMD predictions have been updated. The first 200bp of coding nucleotides on the protein browser are now highlighted as predicted to escape the NMD - 100-200bp is shaded in light grey to reflect the evidence of gradual decrease in NMD inhibition in this region #VariantClassification
C. elegans model enables rapid reclassification of FH gene variants, offering a powerful tool to interpret #VUS and improve diagnosis in FH-associated metabolic diseases. bit.ly/3M9lpHT #GIMO #FHfum1 #ClinicalVariant #CRISPR #VariantClassification #ClinicalDiagnosis
December 2, 2025 at 1:04 AM
C. elegans model enables rapid reclassification of FH gene variants, offering a powerful tool to interpret #VUS and improve diagnosis in FH-associated metabolic diseases. bit.ly/3M9lpHT #GIMO #FHfum1 #ClinicalVariant #CRISPR #VariantClassification #ClinicalDiagnosis
Regional Nonsense Constraint can be viewed on the protein browser, highlighting regions of transcripts that do not tolerant stop_gained variants – based on @gnomad-project.bsky.social and integrated in collaboration with @alexblakes.bsky.social #VariantClassification
July 10, 2026 at 9:58 AM
Regional Nonsense Constraint can be viewed on the protein browser, highlighting regions of transcripts that do not tolerant stop_gained variants – based on @gnomad-project.bsky.social and integrated in collaboration with @alexblakes.bsky.social #VariantClassification
ENIGMA VCEP guidelines significantly improve BRCA1/BRCA2 variant interpretation, reducing VUS rates and streamlining clinical diagnostics bit.ly/4bHELwk #GIMO #ACMGAMP #BRCA1 #BRCA2 #VUS #ColdSpot #VariantClassification #UCSCGenomeBrowser #ClinicalGenetics #SingleNucleotideVariant #SNV #ENIGMA
![Screenshot of Figure 2: Reclassification of VUS at 3 distinct transition points (ACMG/AMP, ACMG/AMP + SVI, and ENIGMA): A. The top section of the figure shows the number of variants n as bars on the y-axis and their classification into (benign, likely benign, and variants of uncertain significance [VUS]) in their corresponding color (green, light green, and yellow, respectively) at 3 distinct transition points t1, t2, and t3 (x-axis). The transition points refer to the initial interpretation and the 2 reanalysis: American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) 2015 (t1) represent the baseline VUS for this study. These variants were classified as VUS between January 2018 and November 2023. Sequence Variant Interpretation Working Group (SVI) recommendations from 2015 onward were considered, depending on the time of classification, eg, PM2 used as supporting evidence strength for all variants. ACMG/AMP + SVI (t2) lists variants that have been reclassified using new annotated data as of November 2023 (eg, ClinVar, BRCA Exchange, literature, and in-house data) and using all current recommendations from the SVI as of November 2023. Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Variant Curation Expert Panels (t3) are variants that have been reclassified based on the same new data as in t2 but using the ENIGMA specifications. The transient lines between the 3 bars, and the numbers indicate how many variants have changed from one class to another between 2 time points.](https://cdn.bsky.app/img/feed_thumbnail/plain/did:plc:qzpuuqdsjiufmttlqkxfgalt/bafkreihectu5bqq72puh5fbwkuksnimnlvt6eumpqfjmimtaigx6gcyp5y)
March 11, 2025 at 7:51 PM
ENIGMA VCEP guidelines significantly improve BRCA1/BRCA2 variant interpretation, reducing VUS rates and streamlining clinical diagnostics bit.ly/4bHELwk #GIMO #ACMGAMP #BRCA1 #BRCA2 #VUS #ColdSpot #VariantClassification #UCSCGenomeBrowser #ClinicalGenetics #SingleNucleotideVariant #SNV #ENIGMA
Out of sight out of mind. Shortening the time from consent to #results return may improve uptake of #secondaryfindings return. bit.ly/4ftAqPn #variantclassification
August 8, 2025 at 4:04 PM
Out of sight out of mind. Shortening the time from consent to #results return may improve uptake of #secondaryfindings return. bit.ly/4ftAqPn #variantclassification