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A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discoveryThe Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical measurements, genetic information, diagnoses, and treatments. A phenopacket can be used as an input file for software that supports phenotype-driven genomic diagnostics and for algorithms that facilitate patient classification and stratification for identifying new diseases and treatments.
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Epigenome-wide meta-analysis of blood DNA methylation in newborns and children identifies numerous loci related to gestational ageWe identified numerous CpGs differentially methylated in relation to gestational age at birth that appear to reflect fetal developmental processes across tissues
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Data Descriptor: Monitoring transcription initiation activities in rat and dogThe promoter landscape of several non-human model organisms is far from complete
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Transcriptional dynamics during human adipogenesis and its link to adipose morphology and distributionOur results suggest a complex but highly coordinated regulation of adipogenesis
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Technical Advance: Transcription factor, promoter, and enhancer utilization in human myeloid cellsThe generation of myeloid cells from their progenitors is regulated at the level of transcription by combinatorial control of key transcription factors...
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Telomerase reverse transcriptase regulates microRNAs.This study reports that telomerase reverse transcriptase extensively affects the expression levels of mature microRNAs.
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The role and therapeutic implications of T cells in cancer of the lungThis review examines the role of T cells in lung cancer, discussing the direction and clinical significance of current and future immunotherapeutic strategies
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Functional genomics in cancer immunotherapy: Computational approaches for biomarker and drug discoveryThis review explores computational strategies to yield biological insight into the processes involved in the immunotherapeutic response
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Trends in prenatal diagnosis of congenital anomalies in Western Australia between 1980 and 2020: A population-based studyAdvances in screening and diagnostics have changed the way in which we identify and diagnose congenital anomalies.
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Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based studyAccurate knowledge of the relationship between craniofacial anomalies (CFA), intellectual disability (ID) and autism spectrum disorder (ASD) is essential to improve services and outcomes. The aim is to describe the association between CFA, ID and ASD using linked population data.