Exome Sequencing News and Research

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Researchers discover dozens of genes tied to OCD and tic disorders

A Rutgers-led international collaboration has identified 36 genes that substantially raise the risk for obsessive-compulsive disorder (OCD) and chronic tic disorders – providing what two researchers said is the most detailed biological understanding of how these conditions develop – and how they might eventually be treated.

2 Sep 2026

Study identifies 36 risk genes for OCD and tic disorders

1 Sep 2026

Genetic analysis of 1 million people points to FNIP1 as a promising metabolic target

Mega-scale exome sequencing of 1,032,116 people identified 59 independent genes linked to the TG:HDL ratio, including 44 rare-coding associations not detected in the previous largest analysis. Ultra-rare FNIP1 loss-of-function variants were associated with favorable fat distribution, lower liver fat and glycemia, and around 60% lower odds of a composite cardiometabolic disease outcome.

7 Aug 2026

Insilico Medicine highlights AI-powered biological target discovery for rare sinonasal cancer

Insilico Medicine ("Insilico"), a clinical-stage generative artificial intelligence (AI)-driven biotechnology company, today announced the publication of a collaborative study in the journal npj Precision Oncology.

4 Aug 2026

Gene linked to lower BMI points researchers toward a new obesity target

A review in Cardiology in Review highlights GPR75, a receptor for 20-HETE, as a promising therapeutic target for obesity and metabolic syndrome. Evidence from genetic studies, cell experiments, and mouse models suggests that blocking this pathway could influence weight gain, insulin resistance, hypertension, inflammation, and vascular dysfunction.

25 Jun 2026

New spatial map reveals treatment vulnerabilities in bladder cancer

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.

18 Jun 2026

Researchers uncover genetic cause of spontaneous spinal CSF leaks

Researchers at Cedars-Sinai Health Sciences University and Johns Hopkins University have identified genetic mutations that may explain why some people develop a spontaneous cerebrospinal fluid (CSF) leak in the spine.

17 Jun 2026

Mutation in OTULIN gene causes rare childhood skin disease

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

15 Jun 2026

Noninvasive sequencing expands prenatal genetic screening capabilities

While non-invasive prenatal testing (NIPT) has revolutionised prenatal diagnostics by allowing the detection of a number of genetic problems in a fetus, it is currently limited and thus misses many genetic causes of abnormalities.

12 Jun 2026

Pediatric experts reveal the 10 research areas set to shape child health

Pediatric research leaders identified 10 high-promise areas likely to shape child health over the next 5 to 10 years, including genomics, mental health, vaccines, artificial intelligence, perinatal medicine, precision therapeutics, health equity, nutrition, environmental health, and cancer treatment. The paper argues that these opportunities will only translate into better outcomes if pediatric research receives sustained funding, public trust, workforce support, advocacy, and equitable implementation.

1 Jun 2026

New CA19-9 threshold improves pancreatic cancer risk prediction accuracy

A dual-threshold model for measuring the pancreatic tumor marker serum carbohydrate antigen 19-9 (CA19-9) identified patients with pancreatic cancer who had high-risk disease despite having low CA19-9 levels because of a genetic variation that impairs their ability to produce this biomarker.

21 May 2026

Early genomic testing prevents years of inconclusive visits for pediatric patients

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

Scientists find "hidden" pre-cancer signs in advanced esophageal cancer patients

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 use whole exome sequencing to discover a new rare genetic disease

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.

13 Apr 2026

Innate immunity genes may influence earlier breast cancer onset in BRCA1 carriers

Damaging variants in genes involved in a rapid immune response (innate immunity) are significantly linked to earlier breast cancer onset in carriers of the harmful BRCA1 genetic mutation, reveal preliminary findings published online in the Journal of Medical Genetics.

31 Mar 2026

New guidance aims to standardize tumor mutational burden in cancer

Immune checkpoint inhibitors have transformed cancer care, yet only a minority of patients respond to monotherapy, and immune-related adverse events remain a major concern.

25 Mar 2026

Key gene mutation disrupts the brain’s ability to update beliefs in schizophrenia patients

One of the symptoms of schizophrenia is difficulty incorporating new information about the world. This can lead patients to struggle with making decisions and, eventually, to lose touch with reality.

18 Mar 2026

Genomic sequencing may expand newborn screening beyond biochemical tests

Routine newborn screening (NBS) has transformed early disease detection. However, traditional biochemical tests limit the range of conditions that can be identified at birth. Next-generation sequencing is being explored as a complementary screening tool.

16 Mar 2026

New review reveals complex polygenic architecture underlying common epilepsies

An insightful mini-review published in Genomic Psychiatry synthesizes the rapidly expanding landscape of molecular genetic research on common epilepsies, assembling evidence from genome-wide association studies, whole-exome sequencing projects, and advanced statistical modeling to illuminate the polygenic architecture that underpins these heterogeneous neurological disorders.

10 Mar 2026

Could a rare gene variant help reduce smoking? New study suggests it might

An exome-wide association study of nearly 38,000 smokers from the Mexico City Prospective Study identified rare coding variants in CHRNB3 that are associated with substantially fewer cigarettes smoked per day. Cross-ancestry analyses in European and East Asian datasets support a role for the β3 nicotinic receptor subunit in modulating smoking intensity.

25 Feb 2026