Exome Sequencing News and Research

RSS

IDT and Illumina collaborate to provide improved solutions for next generation sequencing market

Integrated DNA Technologies today announced a broad partnership with Illumina, Inc. to provide improved library preparation multiplexing and target enrichment solutions for the next generation sequencing market.

31 May 2017

International consensus addresses research bottlenecks to diagnose rare genetic diseases

A worldwide consensus co-authored by more than 40 scientists sets out ways to address research bottlenecks as the international community strives to diagnose most rare genetic diseases by 2020.

4 May 2017

$New mutation predisposes patients under osteoporosis treatment to atypical femur fractures, study finds$

New mutation predisposes patients under osteoporosis treatment to atypical femur fractures, study finds

A team of researchers of the University of Barcelona and the Hospital del Mar Medical Research Institute have discovered a new mutation that has an impact on the bone so that it is vulnerable to the bisphosphonate, a drug used to treat osteoporosis.

4 May 2017

Whole-exome sequencing may routinely miss detecting some disease-causing genes, say researchers

Whole-exome DNA sequencing -- a technology that saves time and money by sequencing only protein-coding regions and not the entire genome -- may routinely miss detecting some genetic variations associated with disease, according to Penn State researchers who have developed new ways to identify such omissions.

24 Apr 2017

Researchers identify 26 novel genes linked to intellectual disability

Researchers at the Centre for Addiction and Mental Health and Queen's University have identified 26 new genes linked to intellectual disability. Currently most patients with intellectual disability receive no molecular diagnosis, which significantly affects their health and shortens their lifespan.

11 Apr 2017

Genetic screening and counseling likely to benefit childhood cancer survivors, study suggests

Twelve percent of childhood cancer survivors carry germline mutations that put them or their children at increased risk of developing cancer, according to a landmark study presented today at the annual meeting of the American Association for Cancer Research.

4 Apr 2017

Study reveals link between rare NKPD1 gene and depressive symptoms

A study of people from an isolated village in the Netherlands reveals a link between rare variants in the gene NKPD1 and depressive symptoms.

4 Apr 2017

OTUD6B gene mutations linked to physical and intellectual deficits

An international team of researchers from institutions around the world, including Baylor College of Medicine, has discovered that mutations of the OTUD6B gene result in a spectrum of physical and intellectual deficits.

24 Mar 2017

Genome sequencing approach opens door to therapy options for rare, neglected cancers

An international team of scientists led by the Icahn School of Medicine at Mount Sinai and UConn School of Medicine have reported the results of a genome sequencing study for an extremely rare form of cancer.

23 Mar 2017

Study reveals novel mutations in mucosal melanoma that may pave way for new therapies

Not all melanomas are created equal. While most melanomas appear on the skin as the result of sun exposure, a small subset of melanomas arise spontaneously from mucosal tissues.

15 Mar 2017

Researchers discover rare deafness-dystonia syndrome in a family in Pakistan

A group of researchers from Pakistan, Europe and Singapore have identified and characterised a previously undiscovered rare deafness-dystonia syndrome in a family living in a remote region of Pakistan.

28 Feb 2017

Fetal genomic sequencing could enhance detection rate of genetic findings, study shows

In a study to be presented Thursday, Jan. 26, in the oral plenary session at 8 a.m. PST, at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting, researchers with the Columbia University Medical Center in New York found that, in preliminary data, fetal genomic (whole exome) sequencing (WES) as a diagnostic test for women with pregnancies complicated by major fetal congenital anomalies increased the detection rate of genetic findings by between 10 to 30 percent.

23 Jan 2017

Linking human genome sequences to EHR information could influence clinical medicine, says expert

The value of intersecting the sequencing of individuals' exomes or full genomes to find rare genetic variants -- on a large scale -- with their detailed electronic health record information has "myriad benefits, including the illumination of basic human biology, the early identification of preventable and treatable illnesses, and the identification and validation of new therapeutic targets," wrote Daniel J. Rader, MD, chair of the Department of Genetics, in the Perelman School of Medicine at the University of Pennsylvania, in Science this week, with Scott M. Damrauer, MD, an assistant professor of Surgery at Penn and the Veterans Affairs Medical Center in Philadelphia.

23 Dec 2016

Scientists identify gene variants causing unrecognized developmental disorder

An international team of scientists has identified variants of the gene EBF3 causing a developmental disorder with features in common with autism.

22 Dec 2016

Scientists use unified analysis approach for diagnosing diseases with multiple genetic causes

Scientists at Baylor College of Medicine, Baylor Genetics, the University of Texas Health Science Center at Houston and Texas Children's Hospital are combining descriptions of patients' clinical features with their complex genetic information in a unified analysis to obtain more precise diagnoses of complex diseases, particularly those that involve more than one gene causing the condition.

8 Dec 2016

Nature Methods publishes comparative study of leading Protein-Protein Interaction Networks

Nature Methods published (online) a comparative study of leading Protein-Protein Interaction (PPI) Networks.

1 Dec 2016

Recessive gene mutations could cause debilitating neurological disease in children

Researchers have linked a debilitating neurological disease in children to mutations in a gene that regulates neuronal development through control of protein movement within neuronal cells.

29 Nov 2016

Chemotherapy leads to drug-resistance in bladder cancer patients

Chemotherapy is indicated as the first line of treatment for advanced bladder cancer. New research by Weill Cornell Medicine and University of Trento scientists shows that while chemotherapy kills the most common type of bladder cancer, urothelial cancer, chemotherapy also shapes the genetic evolution of remaining urothelial cancer cell clones to become drug-resistant.

18 Oct 2016

Penn researchers develop open-source software to infer evolutionary track of tumor metastasis

Individual cells within a tumor are not all the same. This may sound like a modern medical truism, but it wasn't very long ago that oncologists assumed that taking a single biopsy from a patient's tumor would be an accurate reflection of the physiological and genetic make-up of the entire mass.

9 Sep 2016

Studying mutant peptides may help detect weaknesses in tumor cells

Researchers from MIPT, the Institute of Biomedical Chemistry, the Institute for Energy Problems of Chemical Physics, and the Research Institute of Physico-Chemical Medicine have presented an algorithm to detect mutant proteins based on mass spectrometry data and the results of exome sequencing.

29 Aug 2016