RT @PhenoTips: Today's #CitationSpotlight is the 2020 @NatureGenet paper by Reuter et al. (@RManshaei @RobinHayeems @LucMertens8) "The #Car…
Today's #CitationSpotlight is the 2020 @NatureGenet paper by Reuter et al. (@RManshaei @RobinHayeems @LucMertens8) "The #Cardiac #Genome Clinic: implementing #GenomeSequencing in #PediatricHeartDisease" in which PhenoTips was used to capture @hp_ontology
Today's #CitationSpotlight is the 2020 Reuter et al. @GIMJournal Paper "The #Cardiac Genome Clinic: implementing genome sequencing in #pediatric #HeartDisease" which employed PhenoTips to capture @hp_ontology phenotypes in the analysis of >111 genomes.
This week's #CitationSpotlight is the @NatureGenet study that used PhenoTips to enter @hp_ontology terms "The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease" by our clients at @SickKidsNews, Reuter et al. @RManshaei https
RT @GIMJournal: Moving pediatric congenital heart defect diagnostic testing into the 21st century: Genome sequencing is a promising first-…
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease #PrecisionMedicine https://t.co/GtuCkdltAV
RT @MarcosCicerchia: 🧬👩🏽🧒🏼Genome sequencing identified a disease-causing variant in 14/111 pediatrics heart disease 👉🏼Most genes were assoc…
RT @MarcosCicerchia: 🧬👩🏽🧒🏼Genome sequencing identified a disease-causing variant in 14/111 pediatrics heart disease 👉🏼Most genes were assoc…
RT @GIMJournal: Moving pediatric congenital heart defect diagnostic testing into the 21st century: Genome sequencing is a promising first-…
RT @GIMJournal: Moving pediatric congenital heart defect diagnostic testing into the 21st century: Genome sequencing is a promising first-…
RT @MarcosCicerchia: 🧬👩🏽🧒🏼Genome sequencing identified a disease-causing variant in 14/111 pediatrics heart disease 👉🏼Most genes were assoc…
RT @MarcosCicerchia: 🧬👩🏽🧒🏼Genome sequencing identified a disease-causing variant in 14/111 pediatrics heart disease 👉🏼Most genes were assoc…
RT @MarcosCicerchia: 🧬👩🏽🧒🏼Genome sequencing identified a disease-causing variant in 14/111 pediatrics heart disease 👉🏼Most genes were assoc…
🧬👩🏽🧒🏼Genome sequencing identified a disease-causing variant in 14/111 pediatrics heart disease 👉🏼Most genes were associated with “syndromic disease” 👉🏼For the majority the etiology remained unknown 👉🏼Genomic curation largely depends on manual data review h
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease | Genetics in Medicine https://t.co/YE8wqFCBex
RT @GIMJournal: Moving pediatric congenital heart defect diagnostic testing into the 21st century: Genome sequencing is a promising first-…
RT @GIMJournal: Moving pediatric congenital heart defect diagnostic testing into the 21st century: Genome sequencing is a promising first-…
RT @GIMJournal: Moving pediatric congenital heart defect diagnostic testing into the 21st century: Genome sequencing is a promising first-…
Moving pediatric congenital heart defect diagnostic testing into the 21st century: Genome sequencing is a promising first-tier diagnostic test for these children https://t.co/EonOQMrqBL #HeartDisease #genomics #pediatricresearch #CHD https://t.co/Iw7B8wTl
Diagnostic utility of genomic testing in patients with pediatric heart disease. Genome sequencing identified causative variants in 14 of 111 families (12.6%) with cardiac lesions. @GIMJournal https://t.co/MTWJoVcADr
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease - https://t.co/SdbHDTlVre
RT @jsantoyo: The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease. https://t.co/R1WIbaSgg1
“This data set demonstrates the diagnostic and scientific value of genome sequencing in pediatric heart disease, anticipating its role as a first-tier diagnostic test.”
RT @jsantoyo: The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease. https://t.co/R1WIbaSgg1
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease. https://t.co/R1WIbaSgg1