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Single genomic test promises accelerated diagnoses for rare genetic diseases

Single genomic test promises accelerated diagnoses for rare genetic diseases
sciencedaily.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from sciencedaily.com Daily Mail and Mail on Sunday newspapers.

United kingdomMatthew hurlesHelen firthCaroline wrightUniversity of exeterUniversity of cambridgeWellcome sanger instituteDeciphering developmental disordersGenomic medicineClinical genomics

Single genomic test promises accelerated diagnoses for rare genetic diseases

Single genomic test promises accelerated diagnoses for rare genetic diseases
medicalxpress.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from medicalxpress.com Daily Mail and Mail on Sunday newspapers.

United kingdomCaroline wrightMatthew hurlesPetr danecekHelen firthUniversity of exeterWellcome sanger instituteUniversity of cambridgeMedicine openDeciphering developmental disordersProfessor matthew hurles

New Genomic Test Speeds Up Rare Genetic Disease Diagnosis

New Genomic Test Speeds Up Rare Genetic Disease Diagnosis
miragenews.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from miragenews.com Daily Mail and Mail on Sunday newspapers.

United kingdomCaroline wrightHelen firthMatthew hurlesWellcome sanger instituteUniversity of cambridgeUniversity of exeterDeciphering developmental disordersGenomic medicineClinical genomics

Rare disorder causing extra fingers and toes identified

Rare disorder causing extra fingers and toes identified
medicalxpress.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from medicalxpress.com Daily Mail and Mail on Sunday newspapers.

United kingdomUnited statesErical harrisJames poulterRadboud university medical centerWellcome sanger instituteProfessor helen firth at cambridge universityLeeds teaching hospitalsUniversity of leedsWale all wales medical genomics serviceUniversity academic fellow in molecular neuroscienceAmerican journalHuman geneticsPierre lavigneProfessor helen firthLeaders fellow

Accurate proteome-wide missense variant effect prediction with AlphaMissense

Accurate proteome-wide missense variant effect prediction with AlphaMissense
science.org - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from science.org Daily Mail and Mail on Sunday newspapers.

United statesAmerican association for the advancement of scienceResearch platformAmerican college of medical geneticsFine tuning alphafoldEvolutionary scale modelingVariant effectAmerican collegeMedical geneticsDeciphering developmental disordersCalibrated alphamissenseUnited kingdom biobankAlphafold structure databaseAmerican association