Top Tweets for #exomiser
#Exomiser ranks potential rare Mendelian disease-causing #variants from whole-exome or whole-genome sequencing data. Learn more here: https://t.co/vL2wtBzwqk
#RareDisease #OpenScience #BigData #Collaborative #TranslationalScience #Disease #Genomics #Healthcare
@MonarchInit, @hp_ontology and #deepPhenotyping in our #exomiser tool improves #rareDisease #diagnostics!
@NIH_ORIP @genome_gov @rarediseaseuk @RareDiseases
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).
@MonarchInit @hp_ontology and #deepPhenotyping in our #exomiser tool improves #rareDisease #diagnostics! @NIH_ORIP @genome_gov @rarediseaseuk @RareDiseases
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).
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! #HPO #Exomiser #Genomics #HealthCare
AJHG 2022 review: https://t.co/dYd1jZuYDn
Do you want to discover new #raredisease genes in your #sequencing dataset?
Come see me at poster PB3307 to find out about our #exomiser-based #R pipeline.
#ASHG2022 @QMUL_C4TB @QMULWHRI #wgs #wes @hp_ontology @MonarchInit
@letizia_ve @SmedleyDamian
We generally identify #variants based on observed phenotypes. But what if we need to do deeper phenotyping? #GenomeDriver is an interesting tool which allows "reverse phenotyping" based on genotype data and #Exomiser outcome. @GIMJournal
https://t.co/bNpcNmFwkY
1 week left to register for our June #SpeakerSeries
Don't miss your chance to learn from the @GenomicsEngland's Director of Genomic Interpretation, developing the #Exomiser package for phenotype-aware analysis for #RareDisease. #GCchat
Register 4 free: https://t.co/W0m9tWEX8O
@DrBrendanMcD @GenomeDiver @NYCKidSeq Depends on @hp_ontology and #Exomiser -- @GenomeDiver embeds these resources. If foetal phenotyping is sufficiently detailed to help discriminate diseases, no reason why #GenomeDiver can't be used in that domain also.
Always satisfying to have the bioinformatics code run successfully in the 1st run 😎🖥
#Bioinformatics #scripting #exomeanalysis #variantanalysis #FRIGE #exomiser #raredisease
Bioinformatics tools often work very well on simulated datasets.
Check out the great performance of the phenotype-driven variant prioritization tool #Exomiser on real patient whole-exomes: https://t.co/NSFA1XKJJ2
@QMUL_C4TB @QMULWHRI @hp_ontology @MonarchInit @UCLeye @impc
📣📰 #irdirc #newsletter is out:
@react_community #Congress - @irdirc #Conference #earlybird #registration
#paper on #Privacy #Genomic #ClinicalData
#Exomiser #IrdircRecognizedResource #IrdircWorkPlan2020
#IrdircNewMembers
#IBlackPearlAward
#Podcast
https://t.co/bWGTyrEHur
Showcasing results of #phenotype-based variant prioritisation tool #Exomiser on @GenomicsEngland data at the @QMULWHRI Annual Review Day. Used #betterposter format by @mikemorrison
@hp_ontology @impc @QMUL_C4TB @MonarchInit @QMULnews @QMUL_LSI
Excited to be in Granada at the 7th #IWBBIO2019 talking about #Exomiser in clinical practice. Very grateful to the Centre for Computational Biology @QMUL_LSI to fully support my travels with the Showcase Award @QMUL
@QMULWHRI @QMULBartsTheLon
@QMULnews @MonarchInit @hp_ontology
The #databiology team is currently implementing #exomiser as a #FAIR application at #BioITDatathon with @jacksonlab ! If you're interested, head to the Cityview room.
@GA4GH #GA4GH2018 @MonarchInit's Jules Jacobsen presenting on extracting varied #phenotype data from #EHR using SMART on #FHIR to make computable #phenopackets, then ship to #exomiser. First demo of using EHR data directly for #variantprioritization algorithmic analysis!
Honored to present today on @MonarchInit #exomiser @broadinstitute https://t.co/SHQeZbVp65
Need #modelorganisms & #nonmodelorganism #phenotype data for variant interpretation! @hp_ontology @ClinGenResource
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