Exome Sequencing News and Research

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Exome sequencing unravels complex genetic diagnoses in growth disorders

In an article published in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, such as short stature, thin tooth enamel (dental enamel hypoplasia), moderate mental deficiency, speech delay, asthma, mildly altered blood sugar, and a history of recurring infections in infancy.

16 Feb 2024

Non-smokers' lung cancer among top five global cancer-related deaths in 2023

The development of lung cancer in individuals who have never smoked.

11 Jan 2024

Key gene linked to male bias in autism, Tourette's, and ADHD uncovered

Sex bias in attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and Tourette syndrome (TS).

8 Dec 2023

New study provides convincing evidence of the essential role of cylicins in sperm development and fertility

Researchers investigated the Role of Cylicins in Spermiogenesis and Male Fertility in Mice and Humans through Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/ CRISPR-associated protein 9 (Cas9) Gene Editing.

30 Nov 2023

Genetic mutation in OXR1 gene linked to brain development issues

Study investigates the effects of a loss-of-function mutation in the OXR1 gene on neurodevelopment and cellular functions in the human brain. The research shows that OXR1 deficiency impairs neural differentiation, increases sensitivity to oxidative stress, and alters histone methylation, impacting brain development and potentially contributing to neurological disorders.

27 Nov 2023

Non-invasive genetic test for fetal DNA sequencing developed

A team of investigators from Massachusetts General Hospital (MGH), Brigham and Women's Hospital (BWH), and the Broad Institute of MIT and Harvard have developed a non-invasive genetic test that can screen the blood of pregnant individuals to survey all genes for fetal DNA sequence variants.

22 Nov 2023

Pigeon virus causes fatal neurological disease in young leukemia patient

A case report details a fatal neurologic disease in an immunocompromised toddler caused by pigeon avian paramyxovirus, underscoring the effectiveness of metagenomic testing in diagnosing complex infectious diseases.

19 Nov 2023

Study sheds light on specific variants responsible for rare and serious disorder

Many disorders are caused by genetic variants; to make matters worse, the genetic origin of most disorders remains unknown.

15 Nov 2023

New diagnostic workflow improves detection of 5q-spinal muscular atrophy

5q-spinal muscular atrophy (5q-SMA) is one of the more common types of spinal muscular atrophy (SMA) affecting around one in ten thousand individuals worldwide.

15 Nov 2023

Crown Bioscience launches large-scale organoid panel screening platform for accelerated preclinical oncology drug discovery

Crown Bioscience, a global contract research organization (CRO) and JSR Life Sciences company, today announced the launch of its ground-breaking service offering, OrganoidXploreTM.

13 Nov 2023

Atlas of cancer's hidden rules: Unveiling the transcriptomic and epigenetic secrets across 11 tumors

Researchers have mapped the complex epigenetic and transcriptomic landscape of cancer, revealing key regulatory elements across 11 tumor types that could unlock new insights into cancer progression and metastasis.

5 Nov 2023

Somatic mutations in the skin not responsible for the start or spread of psoriasis

Psoriasis -; a chronic skin condition -; is not caused or spread by spontaneous genetic mutations in the skin, new research suggests.

26 Oct 2023

Unlocking the future of cancer care: Overcoming challenges in personalized neoantigen vaccine development

Challenges associated with the development and design of neoantigen cancer vaccines.

5 Oct 2023

Rare genetic variants involved in male-pattern hair loss identified

A receding hairline, a total loss of hair from the crown, and ultimately, the classical horseshoe-shaped pattern of baldness: Previous research into male pattern hair loss, also termed androgenetic alopecia, has implicated multiple common genetic variants.

22 Sep 2023

Subclonal neoantigens present a key roadblock in MMRd tumor immunotherapy success

Researchers evaluated sensitivity to immune checkpoint blockade (ICB) therapy.

20 Sep 2023

Researchers identify a rare cause of male infertility and discover a potential cure

Researchers investigated the genetic underpinning of asthenozoospermia, the leading cause of male fertility.

18 Sep 2023

JAX offers a fully validated, clinical whole genome sequencing test

Until quite recently, it was extremely difficult to detect the variants underlying many genetic disorders. In the absence of a defined cause, clinicians have little to guide treatment for those left without a genetic diagnosis, forcing patients and families to embark on a diagnostic odyssey with no guarantee of finding answers.

14 Sep 2023

The value of whole-exome sequencing as a first-tier genetic test in the diagnosis of skin disorders

The genetic etiology by whole-exome sequencing (WES).

23 Aug 2023

New genes linked to breast cancer risk identified

A large-scale international collaborative study lead by Professor Jacques Simard from Université Laval and Professor Douglas Easton at the University of Cambridge, UK, has identified new genes associated with breast cancer that could eventually be included in tests to identify women at increased risk.

18 Aug 2023

New insights into severe obesity genetics: Evidence from adults seeking treatment reveals intriguing oligogenic patterns

Researchers explore the prevalence of rare genetic forms of obesity in a United Kingdom-based clinical obesity cohort.

14 Aug 2023