Single Nucleotide Polymorphisms News and Research

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Life Technologies announces end-to-end sequencing solution for whole human exome CNV analysis

Life Technologies Corporation today announced the first end-to-end sequencing solution for exon-level copy number variation analysis, which combines the Ion Reporter CNV data analysis workflow, the Ion AmpliSeq Exome Kit and the Ion Proton® System.

27 Aug 2013

Two Genomic Pathways Tagged For Roles In Schizophrenia

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26 Aug 2013

Study identifies 22 locations in the human genome that cause schizophrenia

A new genome-wide association study estimates the number of different places in the human genome that are involved in schizophrenia.

26 Aug 2013

Affymetrix introduces cost-effective, high-throughput Axiom 384HT format for genotyping

Affymetrix, Inc. (NASDAQ: AFFX) announces the introduction of the Axiom® 384HT genotyping format, a breakthrough cost-effective, high-throughput format for genotyping in which 384 samples are simultaneously processed with 384 discrete microarrays in a microplate format analyzing up to 50,000 SNPs per sample.

30 Jul 2013

Genetic variations can identify women who are likely to benefit from breast cancer prevention drug

Scientists found genetic variations that could be used to identify women who are most likely to benefit from a certain type of breast cancer prevention drug—and who should avoid it.

3 Jul 2013

Study reports new mechanism that regulates specification of lymphocytes

Scientists at an Academy of Finland Centre of Excellence have discovered a new mechanism regulating the immune response that can leave a person susceptible to autoimmune diseases.

28 Jun 2013

Researchers develop method to identify aggressive prostate cancers

Researchers at Moffitt Cancer Center and colleagues at Louisiana State University have developed a method for identifying aggressive prostate cancers that require immediate therapy. It relies on understanding the genetic interaction between single nucleotide polymorphisms. The goal is to better predict a prostate cancer's aggressiveness to avoid unnecessary radical treatment.

20 Jun 2013

Study finds similar genetic variations in overweight newborns, obese adults

Similar genetic variations occur in both overweight newborns and obese adults, a large study finds.

19 Jun 2013

Gene variants may predict which women are most likely to benefit from breast cancer therapy

In women at high risk for breast cancer, a long-term drug treatment can cut the risk of developing the disease in half. Researchers supported by the National Institutes of Health have now identified two gene variants that may predict which women are most likely to benefit from this therapy—and which should avoid it.

14 Jun 2013

Genetic variations may help predict breast cancer risk in women who receive preventive therapy

Newly discovered genetic variations may help predict breast cancer risk in women who receive preventive breast cancer therapy with the selective estrogen receptor modulator drugs tamoxifen and raloxifene, a Mayo Clinic-led study has found. The study is published in the journal Cancer Discovery.

14 Jun 2013

Findings provide basis for reinvigoration of research efforts in breast cancer prevention

Genetic variations, known as single nucleotide polymorphisms, in or near the genes ZNF423 and CTSO were associated with breast cancer risk among women who underwent prevention therapy with tamoxifen and raloxifene, according to data published in Cancer Discovery, a journal of the American Association for Cancer Research.

14 Jun 2013

Study: New genetic marker predicts warfarin dose in African-Americans

A newfound genetic marker promises to better predict warfarin dose in African-Americans, according to a study published online today in The Lancet. If confirmed in further studies, the finding may help to avert more of the bleeds and blood clots that come when a patient's starting dose misses the drug's narrow safety window.

5 Jun 2013

Echevarne to distribute Natera's non-invasive prenatal screening test in Spain

Natera, a leading innovator in prenatal genetic testing, and Echevarne, a leading clinical analysis laboratory in Spain, today announced the signing of a distribution agreement for Echevarne to offer Natera's non-invasive prenatal screening test, Panorama, through its facilities in Spain.

From Natera 15 May 2013

Researchers identify gene variations linked to male and female infertility

Identification of genetic variations in the genes coding for the hormone FSH may provide new treatments for male and female infertility, according to work presented at the European Congress of Endocrinology in Copenhagen.

30 Apr 2013

New methods boost researchers' analytical powers by incorporating prior knowledge about SNPs function

As scientists probe and parse the genetic bases of what makes a human a human (or one human different from another), and vigorously push for greater use of whole genome sequencing, they find themselves increasingly threatened by the unthinkable: Too much data to make full sense of.

26 Apr 2013

Research supports polygenic phenotype in schizophrenia

Cumulative genetic risk for schizophrenia has been linked to impaired prefrontal brain activity, in findings that support an additive genetic risk model for a polygenic phenotype.

25 Apr 2013

Correcting prostate specific antigen levels for genetic variants can have significant consequences

Genetic variants have been identified which can increase serum prostate specific antigen concentrations and prostate cancer risk. A new study published in The Journal of Urology reports that correcting PSA levels for these genetic variants can have significant consequences, including avoiding unnecessary biopsies for some men and eliminating false complacency for others.

16 Apr 2013

Researchers find three new regions of genome that influence obesity in people of African descent

The largest genetic search for "obesity genes" in people of African ancestry has led to the discovery of three new regions of the human genome that influence obesity in these populations and others.

16 Apr 2013

Incidence of late-onset Alzheimer disease higher among African Americans

In a meta-analysis of data from nearly 6,000 African Americans, Alzheimer disease was significantly associated with a gene that have been weakly associated with Alzheimer disease in individuals of European ancestry, although additional studies are needed to determine risk estimates specific for African Americans, according to a study in the April 10 issue of JAMA, a Genomics theme issue.

11 Apr 2013

New genetic variants may increase susceptibility to breast, prostate and ovarian cancers

The European Collaborative Oncological Gen-‐Environmental Study (COGS) project, whose main goal is to decipher the complex genetic bases of breast, prostate and ovarian cancers, publishes a total of 12 research articles in several prestigious journals, including Nature Genetics, Nature Communications, The American Journal of Human Genetics and PLOS Genetics.

4 Apr 2013

Single Nucleotide Polymorphisms News and Research

Life Technologies announces end-to-end sequencing solution for whole human exome CNV analysis

Two Genomic Pathways Tagged For Roles In Schizophrenia

Study identifies 22 locations in the human genome that cause schizophrenia

Affymetrix introduces cost-effective, high-throughput Axiom 384HT format for genotyping

Genetic variations can identify women who are likely to benefit from breast cancer prevention drug

Study reports new mechanism that regulates specification of lymphocytes

Researchers develop method to identify aggressive prostate cancers

Study finds similar genetic variations in overweight newborns, obese adults

Gene variants may predict which women are most likely to benefit from breast cancer therapy

Genetic variations may help predict breast cancer risk in women who receive preventive therapy

Findings provide basis for reinvigoration of research efforts in breast cancer prevention

Study: New genetic marker predicts warfarin dose in African-Americans

Echevarne to distribute Natera's non-invasive prenatal screening test in Spain

Researchers identify gene variations linked to male and female infertility

New methods boost researchers' analytical powers by incorporating prior knowledge about SNPs function

Research supports polygenic phenotype in schizophrenia

Correcting prostate specific antigen levels for genetic variants can have significant consequences

Researchers find three new regions of genome that influence obesity in people of African descent

Incidence of late-onset Alzheimer disease higher among African Americans

New genetic variants may increase susceptibility to breast, prostate and ovarian cancers

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