Genomic Sequencing News and Research

RSS

Study shows that de novo mutations can be detected in human in vitro fertilized embryos using PGD

Reprogenetics, the largest U.S. genetics laboratory specializing in Preimplantation Genetic Diagnosis (PGD), announced today the publication of new clinical data in the March issue of Genome Research demonstrating that de novo single base mutations can be detected in embryos after in vitro fertilization (IVF).

16 Feb 2015

Whole exome sequencing helps Mayo Clinic neurologist solve a medical mystery

Precision medicine is getting a jump-start from a new national initiative announced in President Obama's State of the Union message. One Georgia family has already experienced its benefits: genomic testing called whole exome sequencing helped Mayo Clinic neurologist Zbigniew Wszolek, M.D., solve a medical mystery that had left a boy with painful, jerking spasms that at times prevented him from walking or talking.

4 Feb 2015

Scientists identify gene mutations that provide better insight into hepatitis-liver cancer link

Using whole genomic sequencing, scientists from RIKEN in Japan have for the first time demonstrated the profound effect that chronic hepatitis infection and inflammation can have on the genetic mutations found in tumors of the liver, potentially paving the way to a better understanding of the mechanisms through which these chronic infections can lead to cancer.

2 Feb 2015

Claritas, NextCODE Health partner to bring global leadership in pediatric medicine, sequence analysis

To rapidly expand the use and power of genomic sequencing for diagnosing and treating rare diseases, Claritas Genomics and NextCODE Health today announced a strategic partnership bringing together global leadership in pediatric medicine and sequence analysis. Claritas Genomics, affiliated with Boston Children's Hospital, is a CLIA-certified clinical laboratory serving the DNA-based diagnostic testing needs of children's hospitals that admit hundreds of thousands of patients with genetic disorders every year.

11 Dec 2014

Researchers test new nanopore DNA sequencing technology to detect cause of antibiotic resistance

New nanopore DNA sequencing technology on a device the size of a USB stick could be used to diagnose infection - according to new research from the University of East Anglia and Public Health England.

From Oxford Nanopore Technologies 9 Dec 2014

Most parents interested in newborn genomic testing, study reveals

A study published this week in Genetics in Medicine is the first to explore new parents' attitudes toward newborn genomic testing. The findings suggest that if newborn genomic testing becomes available, there would be robust interest among new parents, regardless of their demographic background.

5 Dec 2014

New mutations in cat genome identified as causes of human eye diseases

Researchers from the University of Missouri and the 99 Lives Cat Genome Sequencing Initiative today announced groundbreaking discoveries of novel mutations in the cat genome found to correlate to two human eye diseases, retinitis pigmentosa and Leber's Congenital Amaurosis.

16 Oct 2014

Global study shows accuracy of RNA genomic sequencing techniques

Physicians envision a future in which genomic data from patients is heavily used to manage care - but experts have questioned the accuracy and reliability of these analyses. Now, a study by 150 researchers in 12 countries finds real strength and agreement across RNA genomic sequencing techniques and laboratories - as well as ways to improve what little variability exists to set a new high standard.

15 Sep 2014

Deep sequencing technique opens up new possibilities for finding genetic causes for brain disorder

Not every cell in the body is the same genetically, and disease-causing mutations don't necessarily affect every cell—making these mutations easy to miss even with next-generation genomic sequencing.

21 Aug 2014

Researchers discover highly virulent, multidrug resistant form of pathogen in Ohio

A team of clinician researchers has discovered a highly virulent, multidrug resistant form of the pathogen, Pseudomonas aeruginosa, in patient samples in Ohio.

12 Aug 2014

OHSU professor recognized with AAAS Martin and Rose Wachtel Cancer Research Award

Jeffrey Tyner, Ph.D., assistant professor of Cell, Developmental & Cancer Biology for Oregon Health & Science University (OHSU) and a researcher with OHSU's Knight Cancer Institute, has won a distinguished award from the American Association for the Advancement of Science (AAAS) for the development of a research program that more rapidly identifies the mutations driving a patient's cancer and accelerates development of precision treatments.

4 Jul 2014

Researchers identify microorganisms that may trigger diarrheal disease among children

In a finding that may one day help control a major cause of death among children in developing countries, a team of researchers led by faculty from the University of Maryland, College Park and the University of Maryland School of Medicine has identified microorganisms that may trigger diarrheal disease and others that may protect against it.

28 Jun 2014

Current sequencing protocols overlook DNA crucial to bacterial virulence

Genomic sequencing is supposed to reveal the entire genetic makeup of an organism. For infectious disease specialists, the technology can be used to analyze a disease-causing bacterium to determine how much harm it is capable of causing and whether or not it will be resistant to antibiotics.

26 Jun 2014

Genetic changes can predict which patient will benefit from chemotherapy before bladder cancer surgery

Three genetic changes can predict whether a patient will benefit from chemotherapy before surgery to remove bladder cancer, according to new findings presented by Fox Chase Cancer Center researchers during the 50th Annual Meeting of the American Society of Clinical Oncology.

31 May 2014

Researchers test genomic sequencing for women with triple negative breast cancer

Indiana University cancer researchers are testing whether therapy incorporating advanced genomic technology will provide better outcomes than current treatments for those with an aggressive form of breast cancer.

15 May 2014

New technique of single-cell genomic analysis to reverse tissue engineering

Consider the marvel of the embryo. It begins as a glob of identical cells that change shape and function as they multiply to become the cells of our lungs, muscles, nerves and all the other specialized tissues of the body.

15 Apr 2014

UM researchers awarded FDA contract to expand high-throughput sequencing database

Researchers at the Institute for Genome Sciences at the University of Maryland School of Medicine have been awarded a research program contract from the U.S. Food and Drug Administration (FDA) to sequence, assemble, and annotate a population of bacterial pathogens using two high-throughput sequencing (HTS) technologies in support of the expansion of a vetted public reference database.

2 Apr 2014

Personalis and Inova team up to advance genomic medicine

Inova Translational Medicine Institute and Personalis, Inc. today announced a partnership to advance genomic medicine for Inova's patient population.

27 Mar 2014

Researchers to discuss implications of genomic sequencing at ACMG meeting

Researchers from the Mayo Clinic Center for Individualized Medicine will present results of three different studies evaluating implications and feasibility of genome sequencing at the ACMG Annual Clinical Genetics Meeting this week in Nashville, Tenn.