Exome Sequencing News and Research

RSS

Discovery of RNA Brake Offers Insights into Neurodevelopmental Disorders

When a gene produces too much protein, it can have devastating consequences on brain development and function.

24 Oct 2024

Genetic Variants Linked to Rare Bicuspid Aortic Valve Disease Identified

Genetic variants linked to a rare form of bicuspid aortic valve disease that affects young adults and can lead to dangerous and potentially life-threatening aortic complications have been identified by researchers at UTHealth Houston.

3 Sep 2024

Study Explores the Role of Sex-Biased Gene Expression in Autism Risk During Prenatal Development

The cortex of prenatal donors to determine differentially expressed genes based on sex and potentially identify molecular and cellular mechanisms that contribute to ASD.

7 Aug 2024

Whole Genome Sequencing Provides Answers Where Exome Sequencing Falls Short

Genetic mutations in human DNA can prevent proteins that perform important functions in the body from being formed correctly.

11 Jun 2024

Researchers Uncover More Genes Linked to Clonal Hematopoiesis

Researchers have identified 17 more genes that cause the aberrant proliferation of blood cells with mutations as humans age. The results were published in the journal Nature Genetics.

15 May 2024

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

Exome Sequencing News and Research

Discovery of RNA Brake Offers Insights into Neurodevelopmental Disorders

Genetic Variants Linked to Rare Bicuspid Aortic Valve Disease Identified

Study Explores the Role of Sex-Biased Gene Expression in Autism Risk During Prenatal Development

Whole Genome Sequencing Provides Answers Where Exome Sequencing Falls Short

Researchers Uncover More Genes Linked to Clonal Hematopoiesis

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

Driving Support for Pharmaceutical Testing Through Continuous Innovation

From Memory to Metaplasticity: Unraveling the Brain's Secrets

Revolutionizing Mass Spectrometry: A Deep Dive into Plasmion’s SICRIT® Technology

Latest in Genomics