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Population genomics of the Chinese chiton (Liolophura sinensis) reveals how Pleistocene sea-level changes, life history-associated unidirectional gene flow, and local genomic adaptation shape the evolution of marine intertidal species.
BRCA2 mutations are well known to increase cancer risk, however, the significance of many variants remains unknown. Here, the authors combine data from two saturation genome editing studies to classify a total of 5926 variants as pathogenic or benign.
Here the authors analyse genetic data for over 400,000 British and Irish people, showing that the frequency of the major genetic risk factor for haemochromatosis varies from a low of 1/212 in Southern England to 1/62-1/54 in Outer Hebrideans and Northwest Irish. Clinically diagnosed haemochromatosis varies 11- fold in frequency across England, emphasising the uneven risk landscape.
Petrazzini et al. leverage exome sequencing data and a novel machine learning-based marker to identify rare and ultra-rare coding variants associated with coronary artery disease.
In a prospective study involving 1,090 high-risk pregnancies, a comprehensive screening test of fetal cell-free DNA successfully detected pathogenic aneuploidies, microdeletions and monogenic variants linked to fetal anomalies. The inclusion of monogenic conditions alongside chromosomal abnormalities in this test resulted in a 60.7% increase in the detection rate for suspected fetal structural abnormalities.
Whole genome sequencing has enabled new insights into the genetic architecture of complex traits, especially through access to low-frequency and rare variation. This Comment highlights the key contributions from this technology and discusses considerations for its use and future perspectives.
A study in Nature reports the identification of new germline variants associated with particular subtypes of clonal haematopoiesis of indeterminate potential (CHIP) and their links to different health outcomes.
New research has identified a novel, de novo mutation in the TLR7 gene that increases the affinity of TLR7 for guanosine, leading to TLR7 overactivation and child-onset systemic lupus erthematosus.
