In a groundbreaking study published in the in Proceedings of the National Academy of Sciences (PNAS), scientists at Pacific ...

Scientists at Pacific Northwest Research Institute (PNRI) have overturned a long-held belief in genetics: that inheriting two ...

Structural genetic variants include large (>50 base pairs) duplications, inversion, translocations or deletions. Recent advances in long-read sequencing and optical genome mapping, combined with more ...

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 ...

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 ...

Researchers still do not have a comprehensive picture of the factors that influence gene expression in human cancers. Understanding gene expression in cancer is important because it can reveal how the ...

Rare telomere and non-telomere genetic variants significantly affect survival in IPF patients, with non-additive effects on common risk variants. Polygenic risk scores (PRS-IPF) may play a crucial ...

Genetic inheritance may sound straightforward: One gene causes one trait or a specific illness. When doctors use genetics, it’s usually to try to identify a disease-causing gene to help guide ...