Whole Genome Sequencing News and Research

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A joint effort to confront the challenges of rising antimicrobial resistance in Asia

The International Vaccine Institute (IVI) and the Technical University of Denmark's (DTU) National Food Institute announced today a joint effort to strengthen external quality assurance programs for diagnostic laboratories in Asia to confront the challenges of rising antimicrobial resistance (AMR) in the region.

6 Mar 2020

New method to measure mutations in father's sperm may reveal ASD risk in future children

While the causes of autism spectrum disorder are not fully understood, researchers believe both genetics and environment play a role.

13 Feb 2020

Researchers study how structural variations in the genome can lead to cancer

Structural variations in genomes can arise from deleting, amplifying, or reordering genomic segments ranging from a few thousand letters of the genetic code to whole chromosomes.

6 Feb 2020

Research uncovers disease-aggravating mutation in mouse model of GRACILE syndrome

The new mitochondrial DNA (mtDNA) variant drastically speeds up the disease progression in a mouse model of GRACILE syndrome. This discovery provides a new tool for studies of mitochondrial diseases.

29 Jan 2020

Researchers discover new regions of non-coding DNA that may lead to cancer growth

In an unprecedented pan-cancer analysis of whole genomes, researchers at the Ontario Institute for Cancer Research have discovered new regions of non-coding DNA that, when altered, may lead to cancer growth and progression.

17 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

Autism risk in children could be predicted by mutations in paternal sperm

Researchers from the University of California, San Diego, have found that mutations present in the sperms of the father could be predictors of autism in the offspring, in a landmark study. These mutations, if quantified could help ascertain the risk say the researchers. The new study appears this week in the latest issue of the journal Nature Medicine.

23 Dec 2019

Scientists create new classification system for tumors

Based on the largest study of cancer patients of its kind, scientists have created a new way of classifying tumors.

19 Dec 2019

Modifier gene offers a likely explanation for less infection in some patients with cystic fibrosis

Cystic fibrosis is caused by an inherited mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

10 Dec 2019

Study provides most detailed classification of acute myeloid leukemia, myelodysplastic syndrome

Results from a study conducted by St. Jude Children's Research Hospital and the Munich Leukemia Laboratory were presented today as a late-breaking abstract at the American Society of Hematology annual meeting. The study integrates genomic and transcriptomic sequencing to provide the most detailed classification of acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) to date.

10 Dec 2019

DNA testing for siblings of children with ASD may be predictive of future diagnosis

One of the key priorities of interventions for autism spectrum disorder (ASD) is starting early, with some evidence showing infants as young as seven months old could benefit.

5 Dec 2019

Doughnut-shaped circles of ecDNA provide tumor cells with a malignant twist

Deoxyribonucleic acid or DNA encodes information, not only in its sequence but also in its shape.

21 Nov 2019

Novel detection method for retinoblastoma

A retinoblastoma is a dangerous cancer often occurring in very young children, under 2, which can cause blindness or the loss of the eye. The tumor is a diffuse, gluey mass spread all over the eye. It also spreads easily. As a result of this, direct biopsy is impossible, unlike with most other tumors. Instead, eye examination by ophthalmologists (eye specialists) and ultrasound imaging are needed to make a diagnosis.

5 Nov 2019

Chemotherapy can cause drug-resistant mutations in pediatric ALL patients who relapse

Chemotherapy has helped make the most common childhood cancer one of the most curable, but researchers have evidence that the treatment may also prime some patients for relapse.

2 Nov 2019

Improved Cas9 enzyme reduces chance of off-target CRISPR mutations

Genomics experts have discovered that when guide RNAs (gRNA) are designed properly, the risk of off-target mutations induced by the cas9 enzyme is very rare.

30 Oct 2019

NCATS funds 'All of Us Research Program' to evaluate innovative DNA sequencing tools

The All of Us Research Program has selected the HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, to evaluate the use of leading-edge DNA sequencing technologies that could someday improve diagnosis and treatment of many diseases, both common and rare.

18 Oct 2019

Researchers reveal mechanism involved in altering DNA methylation in cancer

Understanding the mechanisms that mediate widespread DNA damage in the cancer genome is of great interest to cancer physicians and scientists because it may lead to improved treatments and diagnosis. In this study, a multi-institutional team led by researchers at Baylor College of Medicine has brought attention to genomic structural variation as a previously unappreciated mechanism involved in altering DNA methylation, a form of gene control, in human cancers.

15 Oct 2019

Custom-made oligonucleotide therapy for girl with fatal Batten disease

Sufferers of fatal Batten disease have been given new hope as scientists develop a custom-made oligonucleotide therapy for a young girl.

14 Oct 2019