Exome Sequencing News and Research

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Multi-Omic Integration Reveals Novel Gene-Disease Links in Undiagnosed Rare Conditions

Researchers from Queen Mary University of London, the Berlin Institute of Health at Charité (BIH) and Genomics England have shown that measuring proteins in the blood can provide important additional clues about the effects of genetic variants, helping to identify diagnoses and potential new disease-causing genes that genome sequencing alone has been unable to resolve.

10 Sep 2026

New Understanding of Brain Circuitry Genes Opens Door for Targeted OCD Therapies

A Rutgers-led international team co-authored a study, which was published in Nature Neuroscience, revealing 36 genes significantly increasing the risk for obsessive-compulsive disorder (OCD) and chronic tic disorders. This research offers the most comprehensive biological insight into the development of these conditions and potential future treatments.

4 Sep 2026

Researchers Uncover Hidden Disease Mechanisms in the Disordered Human Proteome

The human genome contains millions of genetic differences, but determining which ones disrupt biological function–and how–remains a fundamental challenge.

25 Aug 2026

Advanced Bladder Cancer Spatial Mapping Identifies Diverse Cellular Tumor States

Researchers at The University of Texas MD Anderson Cancer Center have developed a spatial map of muscle-invasive bladder cancer, revealing how tumor cell states, immune environments and therapeutic vulnerabilities are organized within tumors.

19 Jun 2026

Scientists Discover Genetic Root of Rare Childhood Inflammatory Skin Disorder

An international team of researchers has identified a genetic cause for a rare inflammatory skin condition.

15 Jun 2026

Structured National Genomic Program can be Effective for Rare Disease Diagnosis

For many families, eight years of uncertainty meant repeated specialist visits, inconclusive genetic tests and the growing fear that a clear answer might never come. For nearly half of the children enrolled in the Telethon Undiagnosed Disease Program (TUDP), that wait is now over.

21 Apr 2026

New Genomic Data Confirms a Single Pathway for Esophageal Adenocarcinoma

Scientists have found the strongest evidence to date that a condition known as Barrett's esophagus is the starting point for all cases of esophageal adenocarcinoma – the most common type of esophageal cancer in the developed world – even when telltale signs of this pre-cancerous stage are no longer visible.

16 Apr 2026

Scientists Discover New Rare Genetic Disease Using Whole Exome Sequencing

Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators used a genetic sequencing technique called whole exome sequencing to discover a new rare genetic disease.

15 Apr 2026

Targeted Genetic Testing Revolutionizes Diagnosis of X-Linked Dystonia-Parkinsonism

Scientists at Brigham and Women's Hospital and Harvard Medical School have developed a targeted genetic test to improve diagnosis for X-linked dystonia-parkinsonism (XDP), a rare and disabling movement disorder that affects primarily men of Filipino ancestry.

17 Nov 2025

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