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
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
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
@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.
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.
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
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.
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.
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
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 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
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.
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
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