Université de Strasbourg and partners report that adding structural variants and small insertion–deletion mutations to single-nucleotide polymorphism analyses raised trait heritability estimates by 14 ...

Genome assemblies from 65 individuals, representing a variety of the world’s populations, are advancing the scientific exploration of complex genetic structural variation. Structural variations are ...

A landmark study harnesses long-read sequencing to reveal vast, previously undetected structural variations in human DNA, reshaping our understanding of genetics and disease potential. Study: ...

Researchers have significantly expanded the catalogue of known human genetic variation. The resulting datasets, shared in two back-to-back publications in the journal Nature, constitute what may be ...

Standard laboratory tests can fail to detect many disease-causing DNA changes. Now, a novel 3D chromosome mapping method can reliably reveal these hidden structural variants and lead to new ...