Single Nucleotide Polymorphisms News and Research

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DNA sequence variations linked with heart's electrical rhythm in several surprising regions

A study among almost 50,000 people worldwide has identified DNA sequence variations linked with the heart's electrical rhythm in several surprising regions among 22 locations across the human genome. The variants were found by an international consortium, including Johns Hopkins researchers, and reported Nov. 14 in the Nature Genetics advance online publication.

21 Dec 2010

23andMe project aims at validating highly scalable pharmacogenomics research

23andMe has launched a project funded by the National Institutes of Health which is aimed at validating 23andMe's highly-scalable platform for pharmacogenomics research. The company received $190,000 in stimulus funding from the American Recovery and Reinvestment Act of 2009 for "Web-based Phenotyping for Genome-Wide Association Studies of Drug Response" from NIH's National Human Genome Research Institute.

17 Dec 2010

DeCODE Genetics identify SNPs to derive PSA threshold for diagnosing prostrate cancer

Scientists from deCODE genetics and academic colleagues from Iceland, the UK, US, Netherlands, Spain and Romania today report the discovery of a set of single-letter variations in the sequence of the human genome that impact individual baseline levels of prostate specific antigen, or PSA.

16 Dec 2010

Complete Genomics announces CNV and SV results as part of complete human genome sequencing service

Complete Genomics Inc. announced today that its customers will now receive copy number variation (CNV) and structural variation (SV) results as part of the CGA™ Service. This new enhancement includes additional types of variation data including quantitative, large-scale copy number measurements and larger inter- and intrachromosomal rearrangements.

10 Dec 2010

Medication and blood transfusion reduce risk of recurrent strokes in young patients with sickle cell anemia

St. Jude Children's Research Hospital investigators discuss results of research into managing iron overload associated with stroke prevention in young sickle cell patients and the search for genetic predictors of stroke risk.

7 Dec 2010

Study compares efficacy of two treatments for iron overload caused by chronic transfusion therapy

Monthly blood transfusions combined with daily medication to remove the resulting excess iron remains the best approach for reducing the risk of recurrent strokes in young patients with sickle cell anemia, according to a preliminary analysis of a multicenter trial that includes St. Jude Children's Research Hospital.

6 Dec 2010

Personal environment influences effects of genes and risk of disease

Personalized medicine centers on being able to predict the risk of disease or response to a drug based on a person's genetic makeup. But a study by scientists at Washington University School of Medicine in St. Louis suggests that, for most common diseases, genes alone only tell part of the story.

4 Dec 2010

LMO1 gene variation can increase neuroblastoma risk

Pediatric cancer researchers have identified variations in a gene as important contributors to neuroblastoma, the most common solid cancer of early childhood. The study team, led by researchers at The Children's Hospital of Philadelphia, found that common variants in the LMO1 gene increase the risk of developing an aggressive form of neuroblastoma, and also mark the gene for continuing to drive the cancer's progression once it forms.

2 Dec 2010

Scientists identify gene variants associated with eating disorder

Scientists at The Children's Hospital of Philadelphia have identified both common and rare gene variants associated with the eating disorder anorexia nervosa.

20 Nov 2010

Researchers suggest that genetic screening may predict heart attack risk

Testing for 11 specific genetic variations in hundreds of people with no history of heart disease provided information that led to revision of their estimated heart attack risk, say Mayo Clinic researchers.

17 Nov 2010

Scientists discover new genetic variants linked to bowel cancer

Cancer Research UK-funded scientists have discovered four new genetic variants linked to bowel cancer by combining data from three major genome studies, reveals a study published in Nature Genetics.

16 Nov 2010

Research on fruit flies reveal novel human pain gene

While it has become clear in recent years that susceptibility to pain has a strong inherited component, very little is known about actual "pain genes" and how they work. In the November 12th issue of Cell, researchers at Children's Hospital Boston and their collaborators report on a novel human pain gene. People with minor variations in this gene showed clear differences in susceptibility to acute heat pain and chronic back pain.

12 Nov 2010

Affymetrix to contribute genotyping data to 1000 Genomes Project

Affymetrix, Inc. today announced that it will contribute genotyping data for a large set of validated rare and common genomic variants to the 1000 Genomes Project. This powerful data consists of genotyping information from more than 2 million single nucleotide polymorphisms (SNPs), and insertions/deletions (indels), many of which were not previously available from any source.

4 Nov 2010

Rubicon's PicoPlex kits provide DNA methylation profiling using next-generation sequencing

Rubicon Genomics today reported data demonstrating that its PicoPlex kits currently marketed for the analysis of single cells for research and diagnostic applications also provide important advantages for genetic and epigenetic profiling using next-generation sequencing (NGS).

2 Nov 2010

1000 Genomes Project publishes comprehensive map of genetic variations in Nature journal

Small genetic differences between individuals help explain why some people have a higher risk than others for developing illnesses such as diabetes or cancer. Today in the journal Nature, the 1000 Genomes Project, an international public-private consortium, published the most comprehensive map of these genetic differences, called variations, estimated to contain approximately 95 percent of the genetic variation of any person on Earth.

28 Oct 2010

deCODE genetics publishes high resolution recombination map of human genome in Nature journal

Scientists from deCODE genetics today publish in Nature the highest resolution recombination map of the human genome yet developed. Recombination is the reshuffling of the genome that occurs in the formation of eggs and sperm: we inherit one version of each chromosome from each of our parents, and create novel blends of the two that we pass on to our offspring.

28 Oct 2010

SNP array's snapshot of Anopheles gambiae genome can help eliminate malaria

The development and first use of a high-density SNP array for the malaria vector mosquito have established 400,000 genetic markers capable of revealing new insights into how the insect adapts to outsmart insecticides and other preventive measures, according to findings published in the current edition of the journal Science.

26 Oct 2010

Scientists use Affymetrix custom microarray to advance malarial study

Affymetrix, Inc. announced today that an international team of researchers led by scientists at Boston College, the Broad Institute, and Imperial College London used an Affymetrix custom microarray to advance the study of malaria by assessing the variation in genetic structure and detecting known and novel genetic differences among malaria vector mosquito populations.

25 Oct 2010

Genetic variations linked to early menopause: Study

In a new study scientists have found that particular genetic variations are linked to early menopause before the age of 45. They compared the DNA of more than 2,000 women who had experienced early menopause with that of women who had menopause later than 45 years.

19 Oct 2010

Akonni receives NIJ grant to develop HCID system for SNP identification

Akonni Biosystems, a molecular diagnostics company that develops, manufactures, and plans to market sophisticated genetic testing devices for diagnosing complex infectious and human diseases, today announced receipt of a nearly $500,000 Phase III Grant from the National Institutes of Justice (NIJ).

13 Oct 2010