Exome Sequencing News and Research

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Breakthrough Study Reveals Genetic Variants with Significant Impact on Obesity Risk

A study led by Medical Research Council (MRC) researchers has identified genetic variants in two genes that have some of the largest impacts on obesity risk discovered to date.

5 Apr 2024

New Test Scrutinizes All Fetal Genes for Early Disease Detection

A research team from Odense University Hospital and the University of Southern Denmark has developed an innovative screening test.

9 Jan 2024

Hidden Genetic Variations can be Detected Using New Nijmegen Method

Many hidden genetic variations can be detected with Chameleolyser, a new method developed in Nijmegen.

2 Nov 2023

Study Uncovers Somatic Mutations That Play a Role in Common Form of Adult Epilepsy

Epilepsy affects approximately 1-in-26 people and the most common form, known as temporal lobe epilepsy (TLE), often cannot be adequately treated with anti-seizure medications.

2 May 2023

New Genetic Mutations Linked to Canine Bladder Cancers Identified

Researchers have identified new genetic mutations linked to a subset of canine bladder cancers. Their findings have implications both for early cancer detection and for targeted treatments in dogs and humans.

26 Apr 2023

Study identifies a novel rare mutation in gene linked to Harlequin Ichthyosis

Harlequin ichthyosis (HI) is a severe genetic skin disorder characterized by thick white, brown, or dark brown patches on the skin covering a newborn's entire body. HI has a low incidence of 1 per 300,000 live births but comes with the highest mortality rate among skin conditions. It is caused by a mutation in the ABCA12 gene, which codes for a protein involved in transporting lipids necessary for the formation of the skin barrier. Such protein shortage leads to a weaker epidermal barrier.

9 Mar 2023

Whole genome sequencing might help better assess tumor evolution

To develop the most efficacious, personalized treatment plans for patients with Hodgkin lymphoma or other cancers, researchers and clinicians must first understand the genetic changes that cause cancer to develop.

23 Feb 2023

NATA accreditation for BGI Australia to perform whole exome sequencing

The National Association of Testing Authorities (NATA) has accredited BGI Australia’s lab to conduct clinical Whole Exome Sequencing in Australia, opening the door for the multinational life sciences company to offer clinical sequencing services for locating potential disease-causing genetic changes.

25 Oct 2022

Mount Sinai and Regeneron Genetics Center launch a large-scale genome sequencing project

Mount Sinai Health System and the Icahn School of Medicine at Mount Sinai have launched a new human genome sequencing research project called the Mount Sinai Million Health Discoveries Program with the Regeneron Genetics Center (RGC), part of the industry-leading, New York-based biotechnology company Regeneron.

12 Aug 2022

Study uncovers genomic drivers and therapeutic vulnerabilities of transformed cutaneous T-cell lymphoma

Cutaneous T-cell lymphoma (CTCL) is an incurable, rare cancer of skin-homing T cells that is highly disfiguring and lethal at advanced stages.

2 Mar 2022

Study unravels novel gene vital for establishing proper left-right asymmetry

A group of scientists headed by the Agency for Science, Technology and Research’s (A*STAR) recently identified a new gene.

17 Dec 2021

Researchers identify genetic variant discrepancies between two genome references

Advances in technology have supported the development of updated reference genomes used for sequencing ever since the Human Genome Project.

16 Jun 2021

New research focuses on possible treatment options for childhood brain cancer

Medulloblastoma is a rare but devastating childhood brain cancer. This cancer can spread through the spinal fluid and be deposited elsewhere in the brain or spine.

11 Jun 2021

Low representation of minority groups in genomic databases may impact therapy selection

Low representation of minority groups in public genomic databases may affect therapy selection for Black patients with cancer, according to new Mayo Clinic research published in npj Precision Oncology.

22 Mar 2021

Rare genetic variants contribute to increased risk for lung cancer

In the United States, lung cancer is the main cause of cancer death in both male and female populations.

19 Mar 2021

Novel computational approach helps find genetic causes of severe childhood brain disorders

A team of researchers at Children's Hospital of Philadelphia affiliated with the CHOP Epilepsy Neurogenetics Initiative (ENGIN) have combined clinical information with large-scale genomic data to successfully link characteristic presentations of childhood epilepsies with specific genetic variants.

27 Aug 2020

Exome Sequencing News and Research

Breakthrough Study Reveals Genetic Variants with Significant Impact on Obesity Risk

New Test Scrutinizes All Fetal Genes for Early Disease Detection

Hidden Genetic Variations can be Detected Using New Nijmegen Method

Study Uncovers Somatic Mutations That Play a Role in Common Form of Adult Epilepsy

New Genetic Mutations Linked to Canine Bladder Cancers Identified

Study identifies a novel rare mutation in gene linked to Harlequin Ichthyosis

Whole genome sequencing might help better assess tumor evolution

NATA accreditation for BGI Australia to perform whole exome sequencing

Mount Sinai and Regeneron Genetics Center launch a large-scale genome sequencing project

Study uncovers genomic drivers and therapeutic vulnerabilities of transformed cutaneous T-cell lymphoma

Study unravels novel gene vital for establishing proper left-right asymmetry

Researchers identify genetic variant discrepancies between two genome references

New research focuses on possible treatment options for childhood brain cancer

Low representation of minority groups in genomic databases may impact therapy selection

Rare genetic variants contribute to increased risk for lung cancer

Novel computational approach helps find genetic causes of severe childhood brain disorders

Identifying a new genetic cause of inherited neuropathy

Researchers create a new mouse model for studying glioblastoma

Integrating metabolomics and genomics to improve patient diagnosis

Online tool to refine results from RNA sequencing from clinically accessible tissues

Quorum Bio: Where Synthetic Biology Meets Sustainable Farming

Diagnostic Biochips: Pioneering Brain Research Tools for the Future

Commercializing Innovation in a Life Sciences Ecosystem

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