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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.
We show that clinically accredited genomic newborn screening can be delivered with short turnaround times, detects many more conditions than standard newborn screening, and is both clinically impactful and highly acceptable to families.
De novo structural variants are an important cause of rare disorders but remain poorly understood. Here, the authors analyse over 12,000 families and reveal the prevalence, diversity, and clinical impact of complex de novo structural variants.
Here the authors provide an explanation for 95% of examined predicted loss of function variants found in disease-associated haploinsufficient genes in the Genome Aggregation Database (gnomAD), underscoring the power of the presented analysis to minimize false assignments of disease risk.
Shafqat Ahmad and Gull Rukh discuss a landmark, twin-based, epidemiological study that highlighted how genetic predisposition and environmental factors interact to influence the risk of coronary heart disease.
Biallelic loss-of-function mutations in PLD4, as identified in five patients with SLE, lead to Toll-like receptor-driven hyperactivation of type I interferon, immune cell expansion and autoimmunity.
We show that clinically accredited genomic newborn screening can be delivered with short turnaround times, detects many more conditions than standard newborn screening, and is both clinically impactful and highly acceptable to families.
