Exome Sequencing News and Research

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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

Is the virtual gene panel the way forward asks Congenica at Dx Summit

Although the current practice of analysing defined gene panels for a specific disease has great utility, it is of limited benefit when a condition is not well defined.

29 Aug 2016

New research article reveals global patterns of genetic variation

Published in today's edition of Nature, the research led by Dr Monkol Lek of the University of Sydney and Dr Daniel MacArthur of The Broad Institute of MIT and Harvard Universities reveals patterns of genetic variation worldwide by sequencing the exomes of 60,706 individuals with diverse geographic ancestries, including European, African, South Asian, East Asian and Latino populations.

18 Aug 2016

Exome Sequencing News and Research

Study reveals link between rare NKPD1 gene and depressive symptoms

OTUD6B gene mutations linked to physical and intellectual deficits

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

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

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

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

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

Scientists identify gene variants causing unrecognized developmental disorder

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

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

Recessive gene mutations could cause debilitating neurological disease in children

Chemotherapy leads to drug-resistance in bladder cancer patients

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

Studying mutant peptides may help detect weaknesses in tumor cells

Is the virtual gene panel the way forward asks Congenica at Dx Summit

New research article reveals global patterns of genetic variation

Scientists identify mutation responsible for new, rare genetic disorder

Scientists find promising new method to detect and treat recurrence of ovarian cancer

Recommendations for integrating genomic results into clinical practice

Whole-exome sequencing can help characterize genetic alterations for commonly used bladder cancer cell lines

Achieving and maintaining ISO 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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