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 ...

This image compares three DNA sequencing technologies: Sanger sequencing, Massively Parallel DNA sequencing, and Nanopore DNA sequencing. Sanger sequencing (left) sequences 500-700 bases per reaction ...

This month Genome Research publishes a special issue highlighting novel advances in computational biology. In collaboration ...

DNA methylation is a highly studied epigenetic modification that is involved in regulating genome function and plays fundamental roles in development and disease. 1 It is linked to a broad range of ...

An international team of scientists has decoded some of the most stubborn, overlooked regions of the human genome using complete sequences from 65 individuals across diverse ancestries. This milestone ...

Roche has put forward a new approach to genetic analysis, which it describes as sequencing-by-expansion—a proprietary method that pulls apart the DNA molecule and amplifies the signal of each ...

The world of pregnancy is going to radically change, predicts Noor Siddiqui. “I think that the default way people are going to choose to have kids is via IVF and embryo screening,” she said at the ...

This image depicts the detection of structural variants (SVs) at low sequencing coverage in both unique and repetitive regions by genomic proximity mapping (GPM), compared with other SV-calling ...