Exome Sequencing News and Research

RSS

Untargeted metabolomics can determine genetic variant to improve patient diagnosis

A patient and family walk into a doctor's office. They hope that the latest tests will reveal what is causing the patient's illness and end the diagnostic odyssey they have been going through for years.

8 Jul 2020

Researchers identify a novel mutation through whole-exome sequencing

Long QT syndrome (LQTS), caused by an ion channel-related gene mutation, is a malignant heart disease with a clinical course of a high incidence of ventricular fibrillation and sudden cardiac death in the young.

27 Jun 2020

St. Jude scientists create O-PDX models for pediatric brain tumor research

Scientists at St. Jude Children's Research Hospital have created orthotopic patient-derived xenograft (O-PDX) models representing a variety of pediatric brain tumor types.

23 Jun 2020

Methods to move precision medicine from evaluation into practice and policy

Value in Health, the official journal of ISPOR-;the professional society for health economics and outcomes research, announced today the publication of a series of articles focused on methods for moving from the evaluation of precision medicine into practice and policy.

26 May 2020

Boston Children's Hospital launches two-pronged study of COVID-19 in children

Boston Children's Hospital has launched a two-pronged study of COVID-19 disease among children and youth up to age 25 across the country, with $2.1 million in funding from the Centers for Disease Control and Prevention.

28 Apr 2020

Researchers develop online resource to refine results from RNA sequencing

DNA sequencing is becoming a more commonplace method for detecting diseases and improving precision medicine.

8 Apr 2020

Study reveals the effects of pre-surgical chemotherapy on breast cancer genome

Results from one of the first studies to determine the effects of pre-surgical, or neoadjuvant, chemotherapy on the breast cancer genome offer up two key insights.

26 Feb 2020

Scientists create world’s first model of pituitary disease using human iPS cells

Researchers at Kobe University's Graduate School of Medicine have developed the world's first congenital pituitary hypoplasia model using patient-derived iPS cells.

14 Feb 2020

Largest genome study sheds light on how genetic glitches trigger tumor formation

It is well-known that when a gene mutates, it triggers tumor formation by stimulating abnormal cell growth and proliferation. Cancer starts from a mutant gene that kickstarts a series of abnormal growth, forming a tumor. However, the exact mechanism of how this happens remains unclear.

6 Feb 2020

'Innovative Research Award' helps CU scientists to explore BRAF inhibition resistance in brain cancer

Cancers used to be defined by where they grow in the body - lung cancer, skin cancer, brain cancer, etc. But work in recent decades has shown that cancers sharing specific genetic changes may have more in common than cancers that happen to grow in an area of the body.

21 Jan 2020

New ACMG Points to Consider document on use of fetal exome sequencing in prenatal care

A new Points to Consider document from the ACMG aims to assist referring physicians, laboratory geneticists, genetic counselors and other medical professionals in understanding the complexity and implications of exome sequencing in prenatal care.

8 Jan 2020

Some genetic sequencing misses out large parts of the genome

A study of patient samples has found that more than a quarter of genes are missed in genetic sequencing procedures.

7 Jan 2020

Whole exome sequencing routinely fails to adequately analyze large segments of DNA

Children who undergo expansive genetic sequencing may not be getting the thorough DNA analysis their parents were expecting, say experts at UT Southwestern Medical Center.

6 Jan 2020

DNA tests to provide rapid diagnosis of rare diseases in critically ill infants

NHS England is will now provide new DNA testing that can rapidly diagnose rare diseases in critically ill babies and children.

3 Jan 2020

Researchers investigate NOTCH1 mutations in keratinocyte lines derived from OSCC biopsies

The cover for issue 63 of Oncotarget features Figure 6, "Inverse relationship between ETV7 and SERPINE1 in OSCC," by Salameti, et al.

4 Dec 2019

Zebrafish study supports accuracy of CRISPR-Cas9 gene editing tool

Along with the promise that CRISPR-Cas9 gene editing technology can offer new human therapies is the need to ensure its safety. A recent study showed that CRISPR-Cas9 did not produce off-target gene mutations in zebrafish. These results, published in Frontiers in Genetics, confirm previous data in animal models that the risk to the rest of the genome from gene editing is minimal.

3 Dec 2019

Genetic mutation of APOE gene may provide protection against Alzheimer's disease

A team of researchers has identified that a genetic mutation of the APOE gene, the major susceptibility gene for late-onset Alzheimer's disease, may provide protection against the devastating neurological illness.

4 Nov 2019

Study reveals novel druggable driver gene in human gastrointestinal stromal tumors

Sarcomas - cancers that arise from transformed mesenchymal cells (a type of connective tissue) - are quite deadly. Gastrointestinal stromal tumors are the most common human sarcoma and are initiated by activating mutations in the KIT receptor tyrosine kinase.

24 Oct 2019

Yale scientists build powerful genomic research platform to study cervical cancer

Yale Cancer Center scientists have built a powerful genomic research platform to study cervical cancer, a disease that often is untreatable if it progresses after surgery or primary chemo-radiation treatment.

17 Oct 2019

Researchers identify gene mutation that causes musculoskeletal problems in children

Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children. The newly diagnosed condition, called NKAP-related syndrome, arises from mutations in the NKAP gene, which plays a key role in human development.

3 Oct 2019