Single Nucleotide Polymorphisms News and Research

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Roche NimbleGen, BGI develop Major Histocompatibility Complex region capture technology

Roche NimbleGen, Inc. and BGI, the world's largest genomic organization, announced that they have developed a Major Histocompatibility Complex (MHC) region capture technology based on NimbleGen SeqCap EZ Choice Library, a revolutionary process for the enrichment of the MHC region.

28 Nov 2011

High fish intake during pregnancy leads to better verbal intelligence, motor skills in children

The statement that 'fish is good for the brain' is increasingly backed-up by scientific evidence but what the actual outcomes are in terms of mental performance or 'brain power' is still being discovered.

18 Nov 2011

Novel mathematical method reveals genetic distinction between individuals

At a time when profound gaps remain in our understanding of how one person's genes differ from another person's, developing accurate methods to interpret the human genome is essential to uncover population history, population relationships and the genetic basis of some of the most common diseases affecting society.

9 Nov 2011

Scientists discover Leishmania parasite with juggling chromosomes

Scientists found a deadly parasite with some of its chromosomes in duplicate, others in triplicate, while still others are present four or even five times. Moreover, the copy number varies between individuals. Such a bizarre occurrence has never before been found in nature, in any organism. As a rule, chromosomes should come in couples. The scientists, from the Institute of Tropical Medicine (ITG) and the Wellcome Trust Sanger Institute, made the striking discovery while deciphering the genetic code of a series of Leishmania-parasites.

29 Oct 2011

Study provides details on genetics behind many metabolic diseases

In what is so far the largest investigation of its kind, researchers uncovered a wide range of new insights about common diseases and how they are affected by differences between two persons' genes. The results from this study could lead to highly targeted, individualized therapies.

27 Oct 2011

Scientists identify 16M SNPs that associate with risk of gout, serum uric acid levels

Scientists at deCODE Genetics and academic collaborators from Iceland, Norway, Denmark, the Netherlands and the USA report the discovery of low frequency variants in the human genome that associate with risk of gout, a common inflammatory arthritis, and serum uric acid levels.

10 Oct 2011

Sequenom launches iPLEX ADME PGx panel to genotype polymorphisms

Sequenom, Inc., a life sciences company providing innovative genetic analysis solutions, today announced the launch of its iPLEX ADME PGx panel developed to genotype polymorphisms in genes associated with drug absorption, distribution, metabolism, and excretion (ADME).

4 Oct 2011

Scientists discover 16 million SNPs that associate with increased risk of ovarian cancer

Scientists at deCODE Genetics and academic collaborators from Iceland, The Netherlands, Spain and Finland today report the discovery of variants in the human genome that associate with increased risk of invasive ovarian cancer, one of the deadliest forms of cancer in women.

3 Oct 2011

GWAS uncovers new genes associated with type 1 diabetes

The largest-ever analysis of genetic data related to type 1 diabetes has uncovered new genes associated with the common metabolic disease, which affects 200 million people worldwide. The findings add to knowledge of gene networks involved in the origin of this complex disorder, in which patients depend on frequent insulin injections to control their blood sugar levels.

30 Sep 2011

Study identifies genetic mutations that affect immune response to measles vaccination

Researchers at Mayo Clinic are hacking the genetic code that controls the human response to disease vaccination, and they are using this new cipher to answer many of the deep-seated questions that plague vaccinology, including why patients respond so differently to identical vaccines and how to minimize the side effects to vaccination.

23 Sep 2011

New data from Pfizer's investigational oncology compounds to be presented at EMCC 2011

Pfizer Oncology announced today that data evaluating crizotinib in anaplastic lymphoma kinase (ALK)-positive advanced non-small cell lung cancer (NSCLC), as well as data from Pfizer's renal cell carcinoma (RCC) portfolio on axitinib, an investigational compound, and SUTENT(sunitinib malate) will be presented at the 2011 European Multidisciplinary Cancer Congress in Stockholm, Sweden, September 23 - 27, 2011.

14 Sep 2011

Researchers identify 29 DNA sequence variations linked with blood pressure

A study involving more than 200,000 people worldwide has identified 29 DNA sequence variations in locations across the human genome that influence blood pressure.

12 Sep 2011

ARUP Laboratories introduces Affymetrix CytoScan HD Array

ARUP Laboratories, a leading national clinical and anatomic pathology reference laboratory and a leader in innovative laboratory research and development, is pleased to introduce its newest SNP-based microarray technology, the Affymetrix CytoScan HD Array.

23 Aug 2011

Mount Sinai to begin largest study of personalized medicine in clinical care setting

Mount Sinai School of Medicine has been awarded a $3.4 million grant over four years from the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) to begin the largest study of its kind, in which a patient's genomic risk for disease is revealed in a lab, and then entered into an electronic medical record for use in determining treatment in the clinical care setting.

19 Aug 2011

Inherited genetic links to prostate cancer discovered

Researchers from the U.S. and Sweden have linked five inherited genetic mutations to the development of a particularly aggressive and deadly form of prostate cancer. They suggest that these findings could someday lead to development of an easy-to-administer blood test to screen for such mutations to help physicians assess the long-term risk faced by newly diagnosed prostate cancer patients.

17 Aug 2011

Researchers identify five SNPs linked with aggressive, lethal prostate cancer

An international team of researchers led by Fred Hutchinson Cancer Research Center has identified five inherited genetic variants that are strongly associated with aggressive, lethal prostate cancer.

17 Aug 2011

Conference to discuss novel studies that address how inherited genes cause breast cancer

A woman's ethnicity as well as her genetic makeup are two of the main risk factors for hereditary breast cancer. Research into understanding and treating hereditary breast cancer will be presented today at the Era of Hope conference, a scientific meeting hosted by the Department of Defense Breast Cancer Research Program.

4 Aug 2011

British scientists find seven new gene variants linked to prostate cancer

Cancer Research UK-funded scientists have taken a further step to identifying men at a greater risk of prostate cancer with the discovery of seven new variants in the human genome that increase the chances of developing the disease. The research is published in Nature Genetics.

3 Aug 2011

Affymetrix to commercialize four Axiom genotyping arrays for the major populations

Affymetrix, Inc. today announced plans to commercialize four Axiom population-optimized arrays used to analyze 100,000 samples collected from volunteers in one of the nation's largest and most diverse genomics projects funded by the National Institutes of Health.

1 Aug 2011

Three new loci linked to asthma susceptibility in Japanese population

Researchers at the RIKEN Center for Genomic Medicine (CGM), together with colleagues at Kyoto University, Tsukuba University, Harvard University, and other medical institutions have identified three new loci associated with susceptibility to adult asthma in the Japanese population.