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The Power of GenomicsDue to an advanced understanding of cancer biology and the rapid development of genomic technologies, cancer has shifted from 200 diseases based on pathology (i.e., what a tumor looks like under the microscope) to thousands of diseases based on molecular tumor profiles (i.e., what a tumor looks like when its altered genome is interrogated). Most cancers arise from alterations to the genome, including changes in the number or structure of chromosomes and variations in a single building block of the genetic code.
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Epigenome-Wide Association Studies of Chronic Obstructive Pulmonary Disease and Lung Function: A Systematic ReviewChronic obstructive pulmonary disease (COPD) results from gene-environment interactions over the lifetime. These interactions are captured by epigenetic changes, such as DNA methylation.
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Single-cell transcriptomic and spatial landscapes of the developing human pancreasCurrent differentiation protocols have not been successful in reproducibly generating fully functional human beta cells in vitro, partly due to incomplete understanding of human pancreas development. Here, we present detailed transcriptomic analysis of the various cell types of the developing human pancreas, including their spatial gene patterns. We integrated single-cell RNA sequencing with spatial transcriptomics at multiple developmental time points and revealed distinct temporal-spatial gene cascades.
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A common genetic variant of a mitochondrial RNA processing enzyme predisposes to insulin resistanceMitochondrial energy metabolism plays an important role in the pathophysiology of insulin resistance. Recently, a missense N437S variant was identified in the MRPP3 gene, which encodes a mitochondrial RNA processing enzyme within the RNase P complex, with predicted impact on metabolism. We used CRISPR-Cas9 genome editing to introduce this variant into the mouse Mrpp3 gene and show that the variant causes insulin resistance on a high-fat diet.
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People with Cerebral Palsy and Their Family's Preferences about Genomics ResearchThe goal of this study was to understand individuals with cerebral palsy (CP) and their family's attitudes and preferences to genomic research, including international data sharing and biobanking.
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The histone demethylase dLsd1 regulates organ size by silencing transposable elementsThe specific role of chromatin modifying factors in the timely execution of transcriptional changes in gene expression to regulate organ size remains largely unknown. Here, we report that in Drosophila melanogaster depletion of the histone demethylase dLsd1 results in the reduction of wing size. dLsd1 depletion affects cell proliferation and causes an increase in DNA damage and cell death.
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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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Common data elements to standardize genomics studies in cerebral palsyTo define clinical common data elements (CDEs) and a mandatory minimum data set (MDS) for genomic studies of cerebral palsy (CP). Method: Candidate data elements were collated following a review of the literature and existing CDEs.