Exome Sequencing News and Research

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Element Biosciences introduces VITARI™, redefining what high-throughput sequencing makes possible

Element Biosciences Inc. today announced VITARI, the first ever high-throughput benchtop sequencing system capable of delivering a high-quality whole genome at $100.

25 Feb 2026

DeepRare AI helps shorten the rare disease diagnostic journey with evidence-linked predictions

Researchers developed DeepRare, an LLM-driven multi-agent diagnostic system that integrates clinical descriptions, phenotype data, and genomic information to improve rare disease identification. Across thousands of cases, the system showed higher diagnostic recall than existing AI tools and clinicians in benchmark testing, while providing traceable reasoning linked to medical evidence.

19 Feb 2026

Polygenic analysis provides new insight into hypermobile Ehlers–Danlos syndrome

Hypermobile Ehlers–Danlos syndrome (hEDS) is one of the most common heritable connective tissue disorders.

10 Feb 2026

Next-generation sequencing expands possibilities for newborn screening

Every year, millions of newborns undergo routine screening as a preventive strategy to detect inherited disorders before symptoms emerge.

4 Feb 2026

AI model ranks genetic variants from severe to mild disease mutations

popEVE combines evolutionary insights with human population data to identify damaging genetic mutations, improving variant scoring for rare diseases.

3 Dec 2025

Current genetic screening guidelines overlook most cases of familial hypercholesterolemia

Current genetic screening guidelines fail to identify most people with an inherited condition known as familial hypercholesterolemia that can cause dangerously high cholesterol and early heart disease, a Mayo Clinic study found.

19 Nov 2025

Study highlights need for XDP specific diagnostic assays

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

Whole genome sequencing reveals how much human heritability we can finally explain

Whole genome sequencing in nearly 500,000 UK Biobank participants shows that observed rare and common variants now explain about 88% of family based heritability for many human traits. By partitioning heritability into rare versus common and coding versus non-coding components, the study narrows where missing heritability still hides and highlights traits that remain only partly understood.

13 Nov 2025

Genetic study reveals unique mutations in Chinese patients with hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM), a common genetic heart disorder, is often caused by mutations in sarcomere-related genes.

10 Oct 2025

New genetic test redefines diagnosis and management of hereditary pancreatitis

A new genetic test developed at Mayo Clinic is redefining how clinicians diagnose and manage hereditary pancreatitis.

11 Sep 2025

Insights into clinical features and genetic variants of Cornelia de Lange syndrome in China

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder with symptoms, including facial anomalies (such as fused eyebrows, short nose, upturned nose tip, and downturned mouth corners), growth retardation, small head (microcephaly), developmental delays, cognitive impairments, excess hair growth, and limb anomalies.

29 Aug 2025

CURE GABA-A and Grann Pharmaceuticals announce global partnership to advance rare neurological therapies

CURE GABA-A (https://curegabaa.org/) is proud to announce a major new partnership with Grann Pharmaceuticals. CURE GABA-A is a nonprofit patient advocacy group founded by Monica Joanna Elnekaveh, mother to Eleanor Elnekaveh.

27 Aug 2025

Researchers identify molecular mechanism behind tamoxifen-related uterine cancer

In a preclinical study, researchers found tamoxifen encourages uterine cell growth; the findings could change how some breast cancers are treated in the future.

22 Aug 2025

Researchers find CFI deficiency alarmingly high in old order Amish

Researchers from Children's Hospital of Philadelphia (CHOP) and the Clinic for Special Children found that complement factor I (CFI) deficiency, an ultra-rare genetic disorder that can cause debilitating neuroinflammation, is more than 4500 times more likely to be found in individuals of Old Order Amish ancestry than the rest of the global population.

13 Aug 2025

Understanding the multifactorial causes of spina bifida

Spina bifida is among the most common and debilitating neural tube defects, affecting approximately 1 in every 2,875 newborns in the United States.

11 Aug 2025

Scientists reveal how rare gene mutations drive schizophrenia risk

Researchers analyzed the largest exome-sequencing dataset to date and identified new rare coding variants and genes linked to schizophrenia risk. The study highlights converging genetic pathways, implicating chromatin organization and GABAergic signaling in schizophrenia neurobiology.

4 Aug 2025

SFARI releases largest dataset on hospitalized children with autism

The Simons Foundation Autism Research Initiative (SFARI) has released phenotypic and genetic data from the Autism Inpatient Collection (AIC), a cohort of more than 1,500 youth participants ages 4 to 20 years old who were hospitalized in one of six child psychiatry units in the United States.

20 Jun 2025