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#genefunction

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United States News Beep

Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients

Cohort characteristics and model risk score distribution The study cohort comprised 92,493 patients enrolled i…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Genetics #Bioinformatics #Biomedicine #GeneFunction #GeneTherapy #general #Geneticsresearch #HumanGenetics #InternalMedicine #Next-generationsequencing #personalizedmedicine #Science
newsbeep.com/us/26569/

US

europesays.com/us/80985/ Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients #Bioinformatics #Biomedicine #GeneFunction #GeneTherapy #general #Genetics #GeneticsResearch #HumanGenetics #InternalMedicine #NextGenerationSequencing #PersonalizedMedicine #Science #UnitedStates #UnitedStates #US

Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients
United States · Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients - United StatesDespite advanced diagnostic tools, early detection of rare genetic conditions like Noonan syndrome (NS) remains challenging. We evaluated a deep learning model’s real-world performance in identifying potential NS cases using electronic health record (EHR) data, validated through genetic sequencing and clinical assessment. The model analyzed 92,428 patients, identifying 171 high-risk individuals (score > 0.8) who underwent comprehensive review. Among these, 86 had prior genetic diagnoses, including three NS cases diagnosed during the study period. Genetic sequencing of remaining patients identified two additional NS cases with pathogenic variants. The model achieved 2.92% precision and 99.82% specificity. While precision was lower than prior validation (33.3%), this reflected expected differences in disease prevalence rather than model degradation. NS-associated phenotypes were enriched among high-risk patients, and trajectory analysis showed potential for earlier identification, highlighting both promise and limitations of EHR-based computational screening tools.
United States News Beep

Multiplexed assays of variant effect for clinical variant interpretation

Chen, E. et al. Rates and classification of variants of uncertain significance in hereditary disease genetic testing. JAMA…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Genetics #Agriculture #AnimalGeneticsandGenomics #Biomedicine #Cancergenetics #CancerResearch #Functionalgenomics #GeneFunction #general #HumanGenetics #Medicalgenetics #Science
newsbeep.com/us/26407/

United Kingdom News Beep

Incorporating genetic data improves target trial emulations and informs the use of polygenic scores in randomized controlled trial design

Ethics statement This study complies with all relevant ethical regulations and was conducted in accordanc…
#NewsBeep #News #Genetics #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CancerResearch #Epidemiology #GeneFunction #general #Geneticsresearch #HumanGenetics #Randomizedcontrolledtrials #Science #UK #UnitedKingdom
newsbeep.com/uk/9054/

United Kingdom News Beep

Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs

Identifying the structures of autism phenotypes To best reflect the complexity of presentations across autistic individuals, we identified…
#NewsBeep #News #Genetics #Agriculture #AnimalGeneticsandGenomics #Autismspectrumdisorders #Biomedicine #CancerResearch #GeneFunction #general #Geneticsresearch #HumanGenetics #Science #UK #UnitedKingdom
newsbeep.com/uk/8820/

Canada News Beep

Incorporating genetic data improves target trial emulations and informs the use of polygenic scores in randomized controlled trial design

Ethics statement This study complies with all relevant ethical regulations and was conducted in accordance with …
#NewsBeep #News #Genetics #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CA #Canada #CancerResearch #Epidemiology #GeneFunction #general #Geneticsresearch #HumanGenetics #Randomizedcontrolledtrials #Science
newsbeep.com/ca/3726/

United States News Beep

Mapping trait-associated cells with spatial transcriptomics

Genome-wide association studies (GWAS) have uncovered numerous genetic variants associated with complex traits. However, a critical gap remains…
#NewsBeep #News #US #USA #UnitedStates #UnitedStatesOfAmerica #Genetics #Agriculture #AnimalGeneticsandGenomics #Biomedicine #CancerResearch #GeneExpression #GeneFunction #general #HumanGenetics #Science #Statisticalmethods
newsbeep.com/us/13537/

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