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 in the DT Biobank…
An end-to-end multifunctional AI platform for intraoperative diagnosis
Patient cohorts This multicenter study included retrospective development and validation of the GAS platform, followed by a prospective…
Machine learning reveals complex genetics of fungal resistance in sorghum grain mold
Ackerman A, Wenndt A, Boyles R (2021) The sorghum grain mold disease complex: pathogens, host responses, and the…
Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs
Ethics We received approval to access and analyze deidentified genetic and phenotypic data from the two cohorts from…
A scoping review of the governance of federated learning in healthcare
As illustrated in Fig. 1, 39 papers were included in the review, which examined the governance of one…
A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia
Tan W, Lin A, Keppler-Noreuil K. Cranioectodermal Dysplasia. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace…
Insights into ancestral diversity in Parkinson’s disease risk: a comparative assessment of polygenic risk scores
Programa de Pós-Graduação em Ciências Médicas, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil Paula Saffie-Awad & Artur…
AAV gene therapy for autosomal recessive deafness 9: a single-arm trial
Chang, Q. et al. Virally mediated Kcnq1 gene replacement therapy in the immature scala media restores hearing in…
How chemotherapy shapes hematopoietic stem cells
Welch, J. S. et al. Cell 150, 264–278 (2012). Article CAS PubMed PubMed Central Google Scholar Mitchell, E.…
Exercise therapy and self-management support for individuals with multimorbidity: a randomized and controlled trial
Study design This was a pragmatic, assessor-blinded, multicenter, parallel-group RCT (1:1 treatment allocation) with follow-up assessments at 4,…