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Reposted

Caroline Wright @carolinefwright.bsky.social · 27d

Super-simple application of pathogenicity evidence during variant assessment in @deciphergenomics.bsky.social - even for complicated PVS1 in multiexon deletions where the frame is preserved - confirming a likely diagnosis.

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Reposted

Caroline Wright @carolinefwright.bsky.social · 28d

Very cool new feature in @deciphergenomics.bsky.social - direct link from any missense variant to ProtVar @ebi.embl.org. This variant is in the binding site and likely interacts with the ligand, predicted using AlphaFold with AlphaFill!

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 28d

The bespoke PubMed search on gene pages is now displayed in bold. This link opens a browser tab with a PubMed search displaying publications that include the gene of interest.

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 28d

Descriptive names for gene and protein predictive scores are now displayed on gene pages to assist in demystifying these scores and making them easier to understand.

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 28d

ClinGen Variant Curation Expert Panel Recommendations are now displayed more clearly on gene pages and in the pathogenicity evidence interface, especially for genes with recommendations for more than one disease @theacmg.bsky.social

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 28d

Links to ProtVar are now available from the protein browser which provide functional and structural annotations for missense variants @ebi.embl.org

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 28d

Mitochondrial gene predictive scores are now displayed on gene pages which indicate the observed depletion or enrichment of specific variants classes in @gnomad-project.bsky.social l‬ compared to a mitochondrial genome constraint model under neutrality selection.

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · 28d

DECIPHER version 11.34 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

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Reposted

G2P @gene2phenotype.bsky.social · Jul 17

FASTKD5-related Leigh syndrome added to DDG2P. Biallelic FASTKD5 LoF variants cause an early- to late-onset Leigh syndrome associated with complex IV deficiency. www.ebi.ac.uk/gene2phenoty...

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Reposted

G2P @gene2phenotype.bsky.social · Jul 11

'UGGT1-related congenital disorder of glycosylation with neurodevelopmental impairment' added to DDG2P. Biallelic UGGT1 LoF variants cause a disorder characterised by developmental delay, intellectual disability, seizures, craniofacial dysmorphism, and microcephaly. See www.ebi.ac.uk/gene2phenoty...

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · Jul 10

18 additional @gnomad-project.bsky.social short tandem repeats are now displayed; 9 recently discovered and 9 which are not currently linked to rare diseases but have historically appeared in various catalogs as suspected disease-causing loci.

deciphergenomics.bsky.social @deciphergenomics.bsky.social · Jul 10

‪Additional functional data from Multiplexed Assays of Variant Effect (MAVEs) are now displayed on functional tabs. Previously only published datasets were displayed, now datasets with a preprint are available @varianteffect.bsky.social

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · Jul 10

DECIPHER version 11.33 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

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Reposted

Wellcome Connecting Science Learning and Training @eventswcs.bsky.social · Jul 3

Unravel the complexities of genome variation with our FREE online course! #FLGenomicVariantsDiversity

🗓️ Starts: 7 July

Learn how to get the most from #genomics data from diverse populations, using variant classification and interpretation approaches. #GenomeVariation🧬

📎bit.ly/3R7G7aK

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · Jun 18

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.

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · Jun 18

‪@gnomad-project.bsky.social‬ v4.1 sequence variant data is now displayed; re-annotated using @ensembl.bsky.social‬ Variant Effect Predictor so molecular consequences reflect the gene build on the DECIPHER website. Data will be re-annotated in the future to ensure the annotations remain current‬

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · Jun 18

DECIPHER version 11.32 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

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Reposted

James Fasham @jamesfasham.bsky.social · May 25

Thanks for capturing this and thanks to the workshop organiserat #ESHG2025☺️

DECIPHER is an amazing example of how keeping genomic data patient centred makes it better!

That is all 🎤

@deciphergenomics.bsky.social
(COI see my bio)

Pilar Cacheiro @pilarcacheiro.bsky.social · May 25

James Fasham is introducing DECIPHER at the Tools for clinical genome interpretation session. I'm afraid that despite his impressive multitasking skills, he is not able to present and post at the same time...

#ESHG2025

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · May 7

Ear disorders curated by Gene2Phenotype (G2P) are now displayed across the website. This includes curations for 87 genes and 97 Locus-Genotype-Mechanism-Disease-Evidence (LGMDE) threads @gene2phenotype.bsky.social

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · May 7

Cancer case frequency data compiled by the National Disease Registration Service from diagnostic laboratories in England is now displayed on the protein browser. Data is available for ~4,500 variants in 13 cancer susceptibility genes including BRCA1, BRCA2, MSH2, PTEN and SMAD4.

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · May 7

Human Developmental Cell Atlas (HDCA) expression data is now displayed. Expression is displayed in 12 sections of a 6-7 post-conception week human embryo, alongside a sagittal view which displays the region of the embryo represented by each section @mhaniffa.bsky.social

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · May 7

DECIPHER version 11.31 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · Apr 14

Submit your abstract for the Curating the Clinical Genome conference - deadline is tomorrow.

Wellcome Connecting Science Learning and Training @eventswcs.bsky.social · Apr 2

The abstract deadline for Curating the Clinical Genome is approaching! #CCG2025

Submit by 15 April ⏰

Present your research to leaders working in the clinical #genomics and #biodata communities, and build your professional profile on a global stage.

📅 11 - 13 June
📎Find out more: bit.ly/4gt4EB6

Wellcome Connecting Science
Curating the Clinical Genome
Conference dates: 11-13 June 2025
Location: Wellcome Genome Campus, UK and online
Abstract deadline: 15 April
Submit now

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Reposted

deciphergenomics.bsky.social @deciphergenomics.bsky.social · Mar 24

Can you spare 5 minutes to help shape the future development of DECIPHER?
Your views are extremely important to us.

Please access our user survey here: docs.google.com/forms/d/e/1F...

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deciphergenomics.bsky.social @deciphergenomics.bsky.social · Mar 24

Can you spare 5 minutes to help shape the future development of DECIPHER?
Your views are extremely important to us.

Please access our user survey here: docs.google.com/forms/d/e/1F...

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