Single Nucleotide Polymorphisms News and Research

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Agilent introduces new microarray platform to study genetic basis of developmental disorders

Agilent Technologies Inc. today introduced the SurePrint G3 Human CGH+SNP microarray platform, an innovative system for simultaneous analysis of chromosomal copy number changes and copy-neutral aberrations. The system allows researchers to study the genetic basis of developmental disorders as well as many cancers.

12 Oct 2010

Researchers investigate whole-genome data to uncover new mutations for CAD risk

The Coronary ARtery DIsease Genome-wide Replication And Meta-Analysis (CARDIoGRAM) published in Circulation Cardiovascular Genetics, an American Heart Association journal consists of data from every published whole-genome study on genetic mutations in heart attack or CAD risk. Researchers are also pooling data from several unpublished genome-wide association studies to see if any new mutations can be uncovered.

6 Oct 2010

New biomarkers could lead to personalized radiation treatments for cancer patients

Mayo Clinic researchers have discovered biomarkers that could lead to personalized radiation treatments for cancer patients. The findings appear today online in the journal Genome Research.

5 Oct 2010

Researchers find genetic variants that cause arthritis in breast cancer patients taking aromatase inhibitors

Mayo Clinic researchers and their international colleagues have discovered genetic variants that lead to severe arthritis for a subset of women when taking aromatase inhibitors to treat their breast cancer. This serious side effect is so painful that many women halt their lifesaving medication. The findings appear today in the online issue of Journal of Clinical Oncology.

28 Sep 2010

GATC Biotech to purchase PacBio real-time sequencing technology

GATC Biotech announced today that it has agreed to purchase the PacBio RS platform, a single molecule, real-time (SMRT™) sequencing technology. The new PacBio RS will be the fifth sequencing technology for GATC Biotech. The system is planned for installation in early 2011.

22 Sep 2010

$Spanish researchers confirm genetic risk factor for osteoporosis and bone fractures$

Spanish researchers confirm genetic risk factor for osteoporosis and bone fractures

Spanish researchers have confirmed there is a genetic risk factor for osteoporosis and bone fractures. Although more studies are still needed, these findings will make it possible to take preventive measures.

22 Sep 2010

BRCA1 gene mutation increases breast cancer risk: Research

Individuals with disrupting mutations in the BRCA1 gene are known to be at substantially increased risk of breast cancer throughout their lives. Now, discoveries from an international research team led by Mayo Clinic researchers show that some of those persons may possess additional genetic variants that modify their risk. These new findings enhancing individualized medicine appear in the current Nature Genetics.

20 Sep 2010

Scientists discover new genetic variants, pave way for early detection of ovarian cancer

An international consortium of scientists has discovered new genetic variants in five regions of the genome that affect the risk of ovarian cancer in the general population, according to two separate studies published today (Sunday), online in Nature Genetics.

20 Sep 2010

Research Roundup: Shifting ER visits to urgent care centers; Evaluating doctors; Medicare Advantage quality ratings

Health Affairs: Many Emergency Department Visits Could Be Managed At Urgent Care Centers And Retail Clinics - Researchers analyzed samples of patient records and found "13.7 percent of all emergency department visits could take place at a retail clinic" - 7.9 percent when hours are restricted - and "an additional 13.4 percent of emergency department visits could take place at a urgent care center—8.9 percent when hours are restricted.

10 Sep 2010

Complete Genomics, SAIC-Frederick collaborate to validate somatic mutations from pediatric cancer cases

Complete Genomics Inc., a life sciences company focused on human genome sequencing, today announced a collaboration to identify and validate somatic mutations from 50 pediatric cancer cases from multiple research centers across the United States.

7 Sep 2010

GABRA2 gene influences brain’s reward responses to alcohol odors: Research

Single nucleotide polymorphisms (SNPs) are DNA sequence variations that occur when a single nucleotide in the genome sequence is altered. Prior research suggested an association between SNPs in a gene that encodes aspects of the brain's gamma-amino butyric acid (GABA)-A receptors (the GABRA2 gene) and alcohol dependence. A study of responses to the aromas of alcoholic drinks according to subjects' genotyping at a SNP in GABRA2 has found that this genotype can affect the brain's reward responses to cues such as alcohol odors.

3 Sep 2010

International consortium publishes third-generation map of human genetic variation

An international consortium today published a third-generation map of human genetic variation, called the HapMap, which includes data from an additional seven global populations, increasing the total number to 11 populations. The improved resolution will help researchers interpret current genome studies aimed at finding common and rarer genetic variants associated with complex diseases.

2 Sep 2010

Genetic profiling to predict treatment benefits of ACE inhibitor therapy for CAD

The advantages of prescribing angiotensin-converting enzyme (ACE) inhibitors for stable coronary artery disease (CAD) may be increased by targeting the therapy to the patients most likely to benefit.Clinical characteristics alone do not allow a reliable identification of these patients, so a research programme was carried out at Erasmus University Medical Centre in Rotterdam to develop a genetic profiling model that predicts the treatment benefits of ACE inhibitors and optimises the recommended therapy.

31 Aug 2010

Genome-wide study identifies key genetic variant associated with nonalcoholic fatty liver disease

Researchers at Massachusetts General Hospital found that patients with nonalcoholic fatty liver disease (NAFLD) who carry an allele of the PNPLA3 gene have an increased risk of developing advanced disease, including nonalcoholic steatohepatitis (NASH), fibrosis, and cirrhosis. A second study supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) validates these findings and further concludes that in pediatric patients, the same allele is associated with earlier disease presentation.

18 Aug 2010

Research confirms genetic link to advanced fatty liver disease

17 Aug 2010

Celera decreases second-quarter net loss to $6.1 million

Celera Corporation today reported net revenues of $32.6 million for the second quarter of 2010 that ended June 26, 2010, compared to $41.4 million for the prior year quarter. For the second quarter of 2010, Celera reported a net loss of $6.1 million, or $0.07 per share, compared to a net loss of $31.7 million, or $0.39 per share, for the prior year quarter.

4 Aug 2010

Scientists identify genetic basis for prostate cancer susceptibility in non-European population

A genome-wide study on Japanese subjects has identified 5 new genetic variations associated with prostate cancer and revealed differences and similarities between Europeans and Asians in susceptibility to the disease. Reported in Nature Genetics, the findings offer a first-ever glimpse of the genetic basis for prostate cancer susceptibility in a non-European population.

2 Aug 2010

Scientists identify genetic variants for breast cancer

Women with higher risk scores that consisted of having certain genetic variants most strongly linked to breast cancer had an associated higher risk of breast cancer, with these scores also highly predictive of estrogen receptor-positive disease, according to a study in the July 28 issue of JAMA.

28 Jul 2010

Affymetrix to develop, commercialize Axiom Chinese myDesign Genotyping Array

Affymetrix, Inc. today announced that it will develop and commercialize the Axiom Chinese myDesign Genotyping Array, the first product that provides maximum power for genome-wide association studies specifically on Chinese populations.