Monarch Initiative · @monarch_initiative
81 followers · 16 posts · Server genomic.social#Exomiser ranks potential rare Mendelian disease-causing #variants from whole-exome or whole-genome sequencing data. Learn more here: https://youtu.be/tzwvWkb3s8A
#RareDisease #OpenScience #BigData #Collaborative #TranslationalScience #Disease #Genomics #Healthcare
#exomiser #variants #raredisease #OpenScience #bigdata #collaborative #translationalscience #disease #genomics #healthcare
Monarch Initiative · @monarch_initiative
66 followers · 5 posts · Server genomic.socialMonarch Initiative, Human Phenotype Ontology (HPO), and #deepPhenotyping in our #Exomiser tool improves #RareDisease #diagnostics!
https://twitter.com/McKennaGenetics/status/1617586278278782979?s=20&t=GCLEXsik6bNMjR7S5r4Q-Q
#NIH_ORIP #NHGRI #NORD #HPO #Collaborative #TranslationalScience #HealthCare
#deepphenotyping #exomiser #raredisease #diagnostics #nih_orip #nhgri #Nord #hpo #collaborative #translationalscience #healthcare
Monarch Initiative · @monarch_initiative
23 followers · 3 posts · Server genomic.socialThe American Journal of Human Genetics selected the “100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report” as one of the top 10 advances in genomic medicine for 2022! This is a very exciting highlight for Monarch tools, including #HPO and #Exomiser!
Paper: https://www.nejm.org/doi/full/10.1056/NEJMoa2035790
AJHG 2022 review: https://www.cell.com/ajhg/fulltext/S0002-9297(22)00494-3
#hpo #exomiser #raredisease #genomics #healthcare