Genomic testing based on chromosome microarray (CMA) and Next Generation Sequencing (NGS) revolutionized clinical genetics. That said, microarray, targeted panel, exome and generic whole genome ...

In the February 15 Nature, the International Human Genome Sequencing Consortium announces the completion of the first draft of the sequence of the human genome. The publication is the achievement of ...

Cornell researchers have found that a new DNA sequencing technology can be used to study how transposons move within and bind to the genome. Transposons play critical roles in immune response, ...

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 ...

Researchers mapped genetic blueprints for 51 species including cats, dolphins, kangaroos, penguins, sharks, and turtles, a discovery that deepens our understanding of evolution and the links between ...

DNA sequencing was revolutionized after scientists discovered a new bacterium in the hot springs of Yellowstone National Park, and today it's a common research technique. This game-changing bacterium ...

Illumina Inc. (NASDAQ: ILMN), a global leader in DNA sequencing and array-based technologies, today announced that its first product based on its novel Illumina Complete Long Read technology is now ...

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 ...