Exome Sequencing News and Research

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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

Scientists identify mutation responsible for new, rare genetic disorder

An international team of researchers has discovered the mutation responsible for a rare, newly identified genetic disorder that causes craniofacial abnormalities and developmental delays.

28 Jul 2016

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

Researchers at the Mayo Clinic Center for Individualized Medicine have found a promising new way to monitor and treat recurrence of ovarian cancer -- a hard-to-detect disease that claims many lives.

21 Jul 2016

Recommendations for integrating genomic results into clinical practice

A quiet transformation has been brewing in medicine, as large-scale DNA results become increasingly available to patients and healthcare providers.

1 Jul 2016

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

Much of basic cancer research is based on studies with cultured cancer cells. However, the usefulness of these studies greatly depends on how accurately these cancer cells grown in a dish represent human tumors.

9 Jun 2016

Unlocking the first gene to cause otosclerosis: an interview with Dr Ralph Holme

Otosclerosis is a common cause of hearing loss, particularly amongst young adults. It normally starts in their 20s or 30s and it affects about 1 in 200 hundred people. In the UK, about 300,000 people are affected by the condition.

7 Jun 2016

Northwestern Medicine scientists link TMEM230 gene mutations to Parkinson's disease development

Northwestern Medicine scientists have discovered a new cause of Parkinson's disease -- mutations in a gene called TMEM230. This appears to be the third gene definitively linked to confirmed cases of the common movement disorder.

7 Jun 2016

Study provides better understanding of sequence of genetic events in colorectal cancer premalignancy

Whole-exome sequencing of both colorectal adenomas (precancers often called polyps) and intestinal mucosa at risk for developing into adenomas from patients with familial adenomatous polyposis (FAP) has generated a comprehensive picture of the genomic alterations that characterize the evolution of normal mucosa to precancer.

25 May 2016

Researchers identify mutations that may stimulate early cancer growth in precancerous colorectal tissue

Researchers at The University of Texas MD Anderson Cancer Center have discovered mutations that may fuel early cancer growth in precancerous colorectal tissue from high-risk patients.

24 May 2016

Expanding gene panel beyond known breast/ovarian cancer genes does not add any clinical benefit

Running large, multi-gene sequencing panels to assess cancer risk is a growing trend in medicine as the price of the technology declines and more precise approaches to cancer care gain steam. The tests are particularly common among breast and ovarian cancer patients. However, questions remain about the growing list of mutations and their suspected, but unproven association with breast and ovarian cancer risk.

6 May 2016

New study finds genetic overlap between bipolar disorder and autism

A new study suggests there may be an overlap between rare genetic variations linked to bipolar disorder (BD) and those implicated in schizophrenia and autism.

5 May 2016

CUMC researchers identify new neurodevelopmental syndrome

A multicenter research team led by Columbia University Medical Center has discovered a new neurodevelopmental syndrome and the genetic mutations that cause it. The discovery is an important step toward creating targeted therapies for individuals with this syndrome, which causes severe developmental delays, abnormal muscle tone, seizures, and eye complications.

22 Apr 2016

Exome sequencing improves speed, accuracy of neurogenetic disorder diagnosis

UCLA researchers have found that a state-of-the-art molecular genetic test greatly improves the speed and accuracy with which they can diagnose neurogenetic disorders in children and adults. The discovery could lead directly to better care for people with rare diseases like spinocerebellar ataxia, leukodsystrophy, spastic paraplegia and many other conditions.

6 Apr 2016

Pediatric researchers uncover new syndrome that causes intellectual disability

Pediatric researchers, using high-speed DNA sequencing tools, have identified a new syndrome that causes intellectual disability (ID). Drawing on knowledge of the causative gene mutation, the scientists' cell studies suggest that an amino acid supplement may offer a targeted treatment for children with this condition.

5 Apr 2016

New tool interprets whole-exome tumor sequencing data for better cancer therapies

A University of Colorado Cancer study published today in the Journal of the American Medical Informatics Association describes a new tool that interprets the raw data of whole exome tumor sequencing and then matches the cancer's unique genetics to FDA-approved targeted treatments.

30 Mar 2016

New MyGene2 web tool may help find genes influencing Mendelian disorders

A new web tool, MyGene2, will enable patients and their families to join clinicians and scientists in the search for genes underlying rare disorders. The sharing of health information also will improve knowledge about how gene variants influence symptoms and other clinical features of Mendelian disorders.

3 Mar 2016

Discovery highlights need to improve patient education about genomics

An overwhelming majority of people with incurable cancer want to hear findings from DNA sequencing of their own tumors and normal cells, and to learn how those results may affect their health and treatment options, Dana Farber Cancer Institute scientists report.

27 Feb 2016

Researchers reveal inherited genetic mutations associated with ovarian cancer risk

Previous research has established a link between genetic mutations in the BRCA1 and BRCA2 genes to an increased risk of developing ovarian, fallopian tube or peritoneal cancer in women.

11 Feb 2016

Temple team describes use of cadaver DNA to advance genetics learning in medical curriculum

Cadavers have long been one of the most important resources for anatomy teaching in medical school. Now, they are also at the forefront of cutting-edge genetics teaching, thanks to innovative thinking by professors at the Lewis Katz School of Medicine at Temple University.

10 Feb 2016