Although genome-wide association studies have uncovered single-nucleotide polymorphisms (SNPs) associated with complex disease, these variants account for a small portion of heritability. Some ...

March 16, 2009 — A Janus kinase 2 (JAK2) gene mutation that increases susceptibility to several myeloproliferative neoplasms (MPNs) is the focus of 3 studies published online March 15 in Nature ...

Five variants of a lipid transporter gene associated with an increased risk of developing type 2 diabetes among Mexicans and other Latin Americans are also seen in a Neanderthal genome sequence, ...

Long-read DNA sequencing technologies such as the Pacific Biosciences (PacBio) and Oxford Nanopore (ONT) platforms, have demonstrated enhanced detection of genomic variation, including Single ...

Global patterns of human DNA sequence variation (haplotypes) defined by common single nucleotide polymorphisms (SNPs) have important implications for identifying disease associations and human traits.

In the May 21 PNAS online, a multi-institutional collaboration of researchers report that single nucleotide polymorphisms (SNPs) in the gene for low-density lipoprotein receptor-related protein 6 ...

Long-read sequencing was declared the method of the year for 2022 and, indeed, has fully arrived on the computational biology scene. Specifically, Oxford Nanopore Sequencing technology has enabled ...

Cambridge, MA, Wed., Oct. 26, 2005 – In several papers published this week in Nature, Nature Genetics, PLoS Biology and Genome Research, Broad researchers and an international set of collaborators ...

Researchers have long known that complex diseases such as cancer and heart disease have genetic components that heavily affect their onset, progression, and response to treatment. But because these ...

Genome-wide association studies (GWAS) are a powerful method for identifying disease susceptibility genes for common diseases, offering the promise of novel targets for therapeutic intervention that ...

The Y chromosome retains a remarkable record of human ancestry, passed directly from father to son. In an article in Genome Research, scientists have utilized recently described genetic variations on ...