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 ...

The most complex engineering of human cell lines ever has been achieved by scientists, revealing that our genomes are more resilient to significant structural changes than was previously thought.

A new genomic method has enabled multiple people with rare conditions to receive diagnoses that were previously unattainable by identifying complex structural genetic changes that are often missed by ...

The most complex engineering of human cell lines ever has been achieved by scientists, revealing that our genomes are more resilient to significant structural changes than was previously thought. The ...

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 ...

From early research to quality control, maintaining analytical continuity is no easy task. Could a single sequencing workflow help simplify analytical assessment?

Largescale changes in the genome inherited from parents are significant risk factors for pediatric solid tumors, such as Ewing sarcoma, neuroblastoma, and osteosarcoma, according to a new study. The ...

Robertsonian chromosomes are large chromosomes that form when the long arm of a chromosome breaks and fuses with another chromosome. They are the most common type of chromosome rearrangement in humans ...

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: ...