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Genetics in Medicine : Official Journal... Jul 2022
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Topics: Exome; Genetic Testing; Genetics, Medical; Genome, Human; Genomics; Humans; Incidental Findings; Policy; United States; Exome Sequencing
PubMed: 35802134
DOI: 10.1016/j.gim.2022.04.006 -
Nature Reviews. Genetics Aug 2023Single-cell genomic technologies are revealing the cellular composition, identities and states in tissues at unprecedented resolution. They have now scaled to the point... (Review)
Review
Single-cell genomic technologies are revealing the cellular composition, identities and states in tissues at unprecedented resolution. They have now scaled to the point that it is possible to query samples at the population level, across thousands of individuals. Combining single-cell information with genotype data at this scale provides opportunities to link genetic variation to the cellular processes underpinning key aspects of human biology and disease. This strategy has potential implications for disease diagnosis, risk prediction and development of therapeutic solutions. But, effectively integrating large-scale single-cell genomic data, genetic variation and additional phenotypic data will require advances in data generation and analysis methods. As single-cell genetics begins to emerge as a field in its own right, we review its current state and the challenges and opportunities ahead.
Topics: Humans; Genomics; Genome; Genotype; Human Genetics
PubMed: 37085594
DOI: 10.1038/s41576-023-00599-5 -
Nature Reviews. Genetics Oct 2020In celebration of the 20th anniversary of Nature Reviews Genetics, we asked 12 leading researchers to reflect on the key challenges and opportunities faced by the field... (Review)
Review
In celebration of the 20th anniversary of Nature Reviews Genetics, we asked 12 leading researchers to reflect on the key challenges and opportunities faced by the field of genetics and genomics. Keeping their particular research area in mind, they take stock of the current state of play and emphasize the work that remains to be done over the next few years so that, ultimately, the benefits of genetic and genomic research can be felt by everyone.
Topics: Disease; Genetics; Genome, Human; Genome-Wide Association Study; Genomics; Humans
PubMed: 32839576
DOI: 10.1038/s41576-020-0272-6 -
Cancer Research Dec 2021Over the past few years, the field of pediatric cancer has experienced a shift in momentum, and this has led to new and exciting findings that have relevance beyond... (Review)
Review
Over the past few years, the field of pediatric cancer has experienced a shift in momentum, and this has led to new and exciting findings that have relevance beyond pediatric malignancies. Here we present the current status of key aspects of pediatric cancer research. We have focused on genetic and epigenetic drivers of disease, cellular origins of different pediatric cancers, disease models, the tumor microenvironment, and cellular immunotherapies.
Topics: Biomedical Research; Child; Epigenomics; Genomics; Humans; Immunotherapy; Neoplasms
PubMed: 34561271
DOI: 10.1158/0008-5472.CAN-21-1191 -
Genes Oct 2021The pig (Sus scrofa) is the most popular large farm animal in the world [...].
The pig (Sus scrofa) is the most popular large farm animal in the world [...].
Topics: Animals; Genetic Association Studies; Genetics, Population; Genomics; Sequence Analysis, RNA; Sus scrofa
PubMed: 34828298
DOI: 10.3390/genes12111692 -
Nature Reviews. Genetics Jan 2021Cancer represents an evolutionary process through which growing malignant populations genetically diversify, leading to tumour progression, relapse and resistance to... (Review)
Review
Cancer represents an evolutionary process through which growing malignant populations genetically diversify, leading to tumour progression, relapse and resistance to therapy. In addition to genetic diversity, the cell-to-cell variation that fuels evolutionary selection also manifests in cellular states, epigenetic profiles, spatial distributions and interactions with the microenvironment. Therefore, the study of cancer requires the integration of multiple heritable dimensions at the resolution of the single cell - the atomic unit of somatic evolution. In this Review, we discuss emerging analytic and experimental technologies for single-cell multi-omics that enable the capture and integration of multiple data modalities to inform the study of cancer evolution. These data show that cancer results from a complex interplay between genetic and non-genetic determinants of somatic evolution.
Topics: Clonal Evolution; Computational Biology; Epigenomics; Genetic Variation; Genomics; Humans; Mutation; Neoplasms; Single-Cell Analysis; Tumor Microenvironment
PubMed: 32807900
DOI: 10.1038/s41576-020-0265-5 -
Cancer Cell Aug 2023The National Cancer Institute's Clinical Proteomic Tumor Analysis Consortium (CPTAC) investigates tumors from a proteogenomic perspective, creating rich multi-omics... (Review)
Review
The National Cancer Institute's Clinical Proteomic Tumor Analysis Consortium (CPTAC) investigates tumors from a proteogenomic perspective, creating rich multi-omics datasets connecting genomic aberrations to cancer phenotypes. To facilitate pan-cancer investigations, we have generated harmonized genomic, transcriptomic, proteomic, and clinical data for >1000 tumors in 10 cohorts to create a cohesive and powerful dataset for scientific discovery. We outline efforts by the CPTAC pan-cancer working group in data harmonization, data dissemination, and computational resources for aiding biological discoveries. We also discuss challenges for multi-omics data integration and analysis, specifically the unique challenges of working with both nucleotide sequencing and mass spectrometry proteomics data.
Topics: Humans; Proteogenomics; Proteomics; Genomics; Neoplasms; Gene Expression Profiling
PubMed: 37582339
DOI: 10.1016/j.ccell.2023.06.009 -
F1000Research 2020Developmental and epileptic encephalopathies (DEEs) are a group of severe, early onset epilepsies characterized by refractory seizures, developmental delay or regression... (Review)
Review
Developmental and epileptic encephalopathies (DEEs) are a group of severe, early onset epilepsies characterized by refractory seizures, developmental delay or regression associated with ongoing epileptic activity, and generally poor prognosis. DEE is genetically and phenotypically heterogeneous, and there is a plethora of genetic testing options to investigate the rapidly growing list of epilepsy genes. However, more than 50% of patients with DEE remain without a genetic diagnosis despite state-of-the-art genetic testing. In this review, we discuss the major advances in epilepsy genomics that have surfaced in recent years. The goal of this review is to reach a larger audience and build a better understanding of pathogenesis and genetic testing options in DEE.
Topics: Epilepsy; Genetic Testing; Genomics; Humans
PubMed: 32201576
DOI: 10.12688/f1000research.21366.1 -
Nature Reviews. Genetics Oct 2020Thirty years on from the launch of the Human Genome Project, Richard Gibbs reflects on the promises that this voyage of discovery bore. Its success should be measured by...
Thirty years on from the launch of the Human Genome Project, Richard Gibbs reflects on the promises that this voyage of discovery bore. Its success should be measured by how this project transformed the rules of research, the way of practising biological discovery and the ubiquitous digitization of biological science.
Topics: Genetic Testing; Genetic Therapy; Genome, Human; Genomics; Human Genome Project; Humans; Information Dissemination; Pharmacogenetics; Risk Assessment
PubMed: 32770171
DOI: 10.1038/s41576-020-0275-3 -
Genes Jan 2021The technological and scientific progress that we have experienced in recent years has contributed to characterization of the complex processes underlying human biology...
The technological and scientific progress that we have experienced in recent years has contributed to characterization of the complex processes underlying human biology and evolution [...].
Topics: Forensic Genetics; Genetic Testing; Genetics, Population; Genomics; Humans
PubMed: 33503983
DOI: 10.3390/genes12020158