Genomic Sequencing News and Research

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DeNovoGear software uses statistical probabilities to help identify genetic mutations

Concealed within the vastness of the human genome, (comprised of some 3 billion base pairs), mutations are commonplace. While the majority of these appear to have neutral effect on human health, many others are associated with diseases and disease susceptibility.

26 Aug 2013

Viewpoints: Obama overlooking legal constraints on employer mandate delay; Bush's 'unnecessary' heart procedure; discrimination against people with mental illnesses

In his Friday remarks, Mr. Obama also claimed that he had the "executive authority" for the mandate delay. But if he really believes that, then why did he say he would normally ask for a legislative "tweak." Either the fix requires legislation or it doesn't. His comments are certainly revealing about his attitudes on Presidential power and the constraints of the U.S. Constitution. Article II, Section 3 instructs him to take care that the laws be faithfully executed, not merely what he thinks is "the essence" of laws (8/10).

13 Aug 2013

DNA mutation 'signature' identified in urinary tract cancers linked to birthwort herb

Genomic sequencing experts at Johns Hopkins partnered with pharmacologists at Stony Brook University to reveal a striking mutational signature of upper urinary tract cancers caused by aristolochic acid, a plant compound contained in herbal remedies used for thousands of years to treat a variety of ailments such as arthritis, gout and inflammation.

8 Aug 2013

BGI, CITIC-XIANGYA successfully apply NGS to detect IVF embryos with genetic abnormalities

The largest genomic institute of the world, BGI Shenzhen, China, together with Reproductive & Genetic Hospital CITIC-XIANGYA announced today that they have successfully applied Next Generation Sequencing to detect in vitro fertilized embryos with genetic abnormalities.

24 Jul 2013

NIH study seeks genetic links to answer the 'Why?' of unexplained disorders

Even in the absence of a ready solution, knowing why a child faces physical, emotional and intellectual challenges is helpful to physicians and families. Researchers at the HudsonAlpha Institute for Biotechnology are using high throughput genomic sequencing to meet major diagnostic needs for childhood genetic disorders through a multi-year grant potentially totaling more than $7.6 million from the National Institutes of Health.

24 Jul 2013

BioNano Genomics signs strategic partnership with New York Genome Center

BioNano Genomics and the New York Genome Center announced today a strategic partnership between the two institutions that includes the purchase of an Irys System by NYGC.

8 Jul 2013

Bacterial DNA more likely to integrate in the genome of tumors than in normal healthy cells

Bacterial DNA may integrate into the human genome more readily in tumors than in normal human tissue, according to a new study from the University of Maryland School of Medicine's Institute for Genome Sciences. Researchers analyzed genomic sequencing data available from the Human Genome Project, the 1,000 Genomes Project and The Cancer Genome Atlas (TCGA). They considered the phenomenon of lateral gene transfer (LGT), the transmission of genetic material between organisms in the absence of sex.

21 Jun 2013

New therapeutic targets for infantile myofibromatosis

Two mutations central to the development of infantile myofibromatosis -a disorder characterized by multiple tumors involving the skin, bone, and soft tissue-may provide new therapeutic targets, according to researchers from the Icahn School of Medicine at Mount Sinai.

26 May 2013

Children born with CDG don't contain mutation in every cell type, say Sanford-Burnham researchers

Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars.

10 May 2013

High levels of collagen in breasts are associated with breast cancer metastasis

Researchers at Washington University School of Medicine in St. Louis have discovered why breast cancer patients with dense breasts are more likely than others to develop aggressive tumors that spread.

6 May 2013

World must be better prepared for potential pandemics

"In China an influenza virus never before seen in people had, as The Economist went to press, infected at least 82 and killed 17. Meanwhile a new type of coronavirus, the family that brought severe acute respiratory syndrome (SARS), is festering in the Middle East," an editorial in the magazine states.

23 Apr 2013

Study suggests strain with Haiti cholera mutations may increase severity of disease

The cholera strain that transferred to Haiti in 2010 has multiple toxin gene mutations that may account for the severity of disease and is evolving to be more like an 1800s version of cholera, reports a new Northwestern Medicine study.

17 Apr 2013

GE Healthcare releases next-generation sequencing assay for use in clinical trials

GE Healthcare announced today that Clarient Diagnostic Services, Inc., a GE Healthcare company, will begin offering a next-generation sequencing assay focused on solid tumor targets for use in clinical trials.

8 Apr 2013

Researchers use single-cell genome sequencing approach to analyze microbe from biofilm in hospital

A team of researchers led by scientists from the J. Craig Venter Institute (JCVI) has published a study outlining the recovery and genomic analysis, using single-cell genomic techniques, of a periodontal pathogen, Porphyromonas gingivalis, from a hospital sink.

6 Apr 2013

Researchers develop single molecule test for detecting methylated DNA

Collaborators from Mayo-Illinois Alliance for Technology Based Healthcare have developed a new, single molecule test for detecting methylated DNA. Methylation -- the addition of a methyl group of molecules to a DNA strand -- is one of the ways gene expression is regulated.

15 Mar 2013

Weill Cornell and NewYork-Presbyterian create pioneering Institute for Precision Medicine

Recognizing that medicine is not "one size fits all," Weill Cornell Medical College and NewYork-Presbyterian Hospital have created the pioneering Institute for Precision Medicine at Weill Cornell and NewYork-Presbyterian/Weill Cornell Medical Center. This new, cutting-edge translational medicine research hub will explore the new frontier of precision medicine, offering optimal targeted, individualized treatment based on each patient's genetic profile.

1 Feb 2013

SMO and AKT1 mutations appear to drive about 15% of meningiomas

Large-scale genomic sequencing has revealed two DNA mutations that appear to drive about 15 percent of brain tumors known as meningiomas, a finding that could lead to the first effective drug treatments for the tumors, report scientists from Dana-Farber Cancer Institute and the Broad Institute.

23 Jan 2013

Johns Hopkins develops PapGene test to diagnose ovarian and endometrial cancers

Using cervical fluid obtained during routine Pap tests, scientists at the Johns Hopkins Kimmel Cancer Center have developed a test to detect ovarian and endometrial cancers. In a pilot study, the "PapGene" test, which relies on genomic sequencing of cancer-specific mutations, accurately detected all 24 (100 percent) endometrial cancers and nine of 22 (41 percent) ovarian cancers. Results of the experiments are published in the Jan. 9 issue of the journal Science Translational Medicine.

11 Jan 2013

Apophysomyces fungus kills 5 people following a massive Joplin tornado

A fast growing, flesh-eating fungus killed 5 people following a massive tornado that devastated Joplin, Mo., according to two new studies based on genomic sequencing by the Translational Genomics Research Institute (TGen) and the U.S. Centers for Disease Control and Prevention (CDC).

16 Dec 2012

Genomic sequencing reveals therapeutic drug targets for metastatic triple-negative breast cancer

Genomic sequencing has revealed therapeutic drug targets for difficult-to-treat, metastatic triple-negative breast cancer (TNBC), according to an unprecedented study by the Translational Genomic Research Institute (TGen) and US Oncology Research.

7 Dec 2012