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Clinical genetics involves the study, counselling and treatment of individuals and families with heritable disorders and disease predisposition. Diagnostic tools include standard ontologies for describing dysmorphology and traits, pedigree analysis, disease locus mapping by linkage or homozygosity, karyotyping, genome sequencing and genotyping.
An analysis of somatic mutations in blood exomes from 200,618 individuals revealed previously unrecognized genes driving clonal hematopoiesis. Mutations in these genes showed age-dependent clonal expansion and their presence correlated with heightened risks of infection, death and hematological malignancy.
A systematic deep-mutational-scanning analysis of the mitochondrial complex I assembly factor NDUFAF6 reveals its molecular function and aids in the identification of pathogenic variants in mitochondrial disease.
An analysis of somatic mutations in blood exomes from 200,618 individuals revealed previously unrecognized genes driving clonal hematopoiesis. Mutations in these genes showed age-dependent clonal expansion and their presence correlated with heightened risks of infection, death and hematological malignancy.
Final results of two studies — whose preliminary data led to regulatory approval of the gene therapy exagamglogene autotemcel — describe highly effective treatment of sickle-cell disease and transfusion-dependent β-thalassemia.