Monarch InitiativeMay 23, 2023

#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

Introduction to Exomiser

YouTube
Monarch InitiativeJan 26, 2023

Monarch 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

Cmckenna on Twitter

“If you work in a Clinical Genetics department that recruited to the 100k Genome Project I *highly* recommend encouraging one of your clinical genetics trainees to review the top 5 exomiser results in your undiagnosed patients (particularly the trios).”

Twitter
Monarch InitiativeDec 9, 2022

The 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

#RareDisease #Genomics #HealthCare

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report | NEJM

Original Article from The New England Journal of Medicine — 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

New England Journal of Medicine