The DECIPHER Project

[The DECIPHER Project @deciphergenomic]

We’re proud to see DECIPHER highlighted in @emblebi new economic impact report. As part of this ecosystem, DECIPHER helps clinicians & researchers interpret and share phenotype-linked genomic variants

Read the report: https://t.co/I2Z1cdzp9F

[The DECIPHER Project @deciphergenomic]

N=1 treatment informationis now displayed on a new N=1 tab. These are treatments for highly personalized, single-patient clinical trials or custom-designed therapies, curated by the @N1Collaborative and provided by N1C Gene Registry. #TreatmentForAll

[The DECIPHER Project @deciphergenomic]

DECIPHER version 11.38 has been released. See the new features at https://t.co/hlsTbCUIdb #variantinterpretation

[The DECIPHER Project @deciphergenomic]

This #RareDiseaseDay we’re highlighting how open data sharing supports diagnosis, research & families living with rare conditions.
Watch to find out how access to rare disease data can help families better understand their children’s rare conditions
@Unique_charity @GeneticAll_UK

[The DECIPHER Project @deciphergenomic]

@CNwajichukwu We develop new features in collaboration with users to ensure the interfaces are as intuitive as possible. If any users have feedback, we would love to hear from them.

[The DECIPHER Project @deciphergenomic]

DECIPHER version 11.37 has been released. See the new features at https://t.co/hlsTbCVg2J #variantinterpretation

[The DECIPHER Project @deciphergenomic]

Links to IEMbase and Treatable ID have moved – they can now be found on the new Therapies tab

[The DECIPHER Project @deciphergenomic]

Approved genetic drugs/therapies, from the @N1Collaborative, N1C Gene Registry are now displayed in DECIPHER on a new Therapies tab - available from gene pages and patient records.

[The DECIPHER Project @deciphergenomic]

Links to @Unique_charity single gene disorder guides are now displayed in DECIPHER on gene pages, therapies tabs and patient records #inclusion #informationforeveryone

[The DECIPHER Project @deciphergenomic]

I'm excited to be speaking at #FOGLondon this January.

Have a question you'd like me to answer during my session? Drop it in the comments or message me, I'd love to hear your thoughts.

Further information: https://t.co/PpLfaSPEhp

#FOGLondon #genomics #biodata

[The DECIPHER Project @deciphergenomic]

On the protein browser mtDNA @gnomad_project missense and LoF tracks are available which display the location of gnomAD variants with these predicted molecular consequences.

[The DECIPHER Project @deciphergenomic]

On the genome browser, @gnomad_project mitochondrial variants and coverage tracks are now available. Variants can be coloured by predicted consequence, homoplasmic allele frequency or heteroplasmic allele frequency.

[The DECIPHER Project @deciphergenomic]

On annotation tabs, @gnomad_project mitochondrial DNA variant homoplasmic and heteroplasmic counts and allele frequencies for each haplogroup are displayed alongside lineage information from MITOMAP. Heteroplasmy distribution and coverage metrics are also available #mitochondria

[The DECIPHER Project @deciphergenomic]

DECIPHER version 11.35 has been released. See the new features at https://t.co/hlsTbCUIdb #variantinterpretation

[EMBL-EBI @emblebi]

Growth charts guide child healthcare, but standard charts often don’t reflect the growth patterns of children with rare conditions.

A new method, LMSz, creates condition-specific growth charts and is being integrated in @deciphergenomic.

https://t.co/12ixNersK4

[The DECIPHER Project @deciphergenomic]

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 @NIH

[The DECIPHER Project @deciphergenomic]

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.

[The DECIPHER Project @deciphergenomic]

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 @ClinGenResource @TheACMG

[The DECIPHER Project @deciphergenomic]

Links to ProtVar are now available from the protein browser which provide functional and structural annotations for missense variants #protein @emblebi

[The DECIPHER Project @deciphergenomic]

Mitochondrial gene predictive scores are now displayed on gene pages which indicate the observed depletion or enrichment of specific variants classes in @gnomad_project compared to a mitochondrial genome constraint model under neutrality selection @NicoleLake