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Latest Single-nucleotide polymorphism Stories

2011-07-25 15:49:32

The study on single-nucleotide resolution structural variations (SVs) of an Asian and African genome was published online in Nature Biotechnology. This study was performed by BGI (previously known as the Beijing Genomics Institute), the largest genomics organization in the world, and demonstrates that whole genome de novo assembly could serve as a new solution for developing a more comprehensive SV map of individuals. With the rapid development of genomics, more and more experts focus upon...

2011-07-12 12:45:27

Doctors have known for a long time that prostate cancer "runs in the family". Men with relatives who have been diagnosed with prostate cancer have an elevated risk of also developing this type of cancer. It was only last year that DKFZ scientists calculated that this risk rises with the number of affected direct family members and also depends on the relatives' age at outbreak of the disease (DKFZ Press Release 18/2010). The exact DNA variants that contribute to prostate cancer risk have now...

2011-06-20 13:15:12

An international research team, co-led by scientists at Mayo Clinic's campus in Florida, have discovered three potential susceptibility genes for development of progressive supranuclear palsy (PSP), a rare neurodegenerative disease that causes symptoms similar to those of Parkinson's disease but is resistant to Parkinson's medications. Their report is being published online June 19 in Nature Genetics. The findings provide a "testable translational hypothesis" as to the development and...

2011-05-12 00:14:26

Study at the Children's Hospital of Philadelphia yields causes of common variable immunodeficiency A new genomics study, led by the Center for Applied Genomics at The Children's Hospital of Philadelphia, sets the stage for the first predictive diagnostic test in a serious immunodeficiency disease in children. If the disorder, common variable immunodeficiency disease (CVID), can be diagnosed early, children may receive life-saving treatments before the disease can progress. "Currently, there...

2011-04-28 14:40:35

By dividing individuals with autism spectrum disorders (ASD) into four subtypes according to similarity of symptoms and reanalyzing existing genome-wide genetic data on these individuals vs. controls, researchers at the George Washington University School of Medicine and Health Sciences have identified 18 novel and highly significant genetic markers for ASD. In addition, ten of the variants were associated with more than one ASD subtype, providing partial replication of these genetic markers....

2011-04-03 22:11:35

UT MD Anderson scientists also link the same SNP to longer telomeres A common genetic variation links to both bladder cancer risk and to the length of protective caps found on the ends of chromosomes, scientists at The University of Texas MD Anderson Cancer Center reported today at the AACR 102nd Annual Meeting. These endings or tips, called telomeres, guard against chromosomal damage and genomic instability that can lead to cancer and other diseases. "We found a single point of variation in...

2011-04-03 21:42:47

Using new genetic information, scientists have linked a commonly found human genetic variant with both longer telomeres and reduced risk of bladder cancer, according to findings presented at the AACR 102nd Annual Meeting 2011, held April 2-6, and simultaneously published in Cancer Prevention Research, a journal of the American Association for Cancer Research. Jian Gu, Ph.D., assistant professor of epidemiology at The University of Texas MD Anderson Cancer Center, said the single-nucleotide...

2011-03-30 16:55:48

In a study of 1,721 Korean male drinkers aged 40 in an urban population"“based cohort, and another sample of 1,113 male drinkers from an independent rural cohort, information on average daily alcohol consumption was collected and DNA samples were collected for genotyping. In a genome-wide association (GWA) study, 12 single-nucleotide polymorphisms (SNPs) on chromosome 12q24 had genome-wide significant associations with alcohol consumption. These polymorphisms were closely related to...

2011-03-23 21:50:43

Study assigns meaning to regions beyond genes with implications for studies of common diseases Genes make up only a tiny percentage of the human genome. The rest, which has remained measurable but mysterious, may hold vital clues about the genetic origins of disease. Using a new mapping strategy, a collaborative team led by researchers at the Broad Institute of MIT and Harvard, Massachusetts General Hospital (MGH), and MIT has begun to assign meaning to the regions beyond our genes and has...

2011-03-23 08:44:00

BANGALORE, India, March 23, 2011 /PRNewswire/ -- - Bringing Personalized Genomics to your Doorstep Avesthagen Limited achieves another milestone as it announces the launch of its commercial Whole Genome Scanning (WGS) service in India. The human genome contains all of the biological information needed to build and maintain an organism. DNA is essentially made of four kinds of molecules, called bases that are arranged in a sequential order to form a unit known as gene. The...