Exome Sequencing News and Research

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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

Effect of mutations in cancer-driving genes across human cancers

Effect of mutations in cancer-driving genes across human cancers.

9 Aug 2023

Molecular insights: Detecting gene fusions offers new avenues for advanced cancer management

Study identifies gene fusions to understand their relationship with observed pathologies in cancer patients.

8 Aug 2023

Neoantigen discovery sheds light on cancer immunogenicity

Researchers reported a proteogenomic approach to investigate fresh solid melanoma tumor material.

4 Aug 2023

Uncommon genetic allele variants may play a vital role in treatment-resistant depression, finds study

The association between treatment-resistant depression and uncommon functional genetic alleles.

3 Aug 2023

Is there clinical value in screening healthy children with genome sequencing compared with a gene panel for medically actionable pediatric conditions?

Researchers compared the efficacy of proactive genome sequencing and a medically actionable gene panel in identifying potential risk for pediatric-onset disorders in healthy newborns and children.

2 Aug 2023

PacBio's Revio long-read sequencing system to help Bioscientia solve complex genetic cases

PacBio, a leading developer of high-quality, highly accurate sequencing solutions, today announced that Bioscientia is using its Revio long-read sequencing system to expand its genomics research projects and sequence several thousand human genomes per year.

10 Jul 2023

MGI Reveals Latest Updates at ESHG Conference in Glasgow

MGI Tech Co., Ltd. ("MGI"), a company committed to building core tools and technology to lead life science, held a Corporate Satellite Meeting and revealed significant local partnerships at the ESHG Conference in Glasgow.

From MGI 16 Jun 2023

New findings expand the genotypic spectrum of NPRL3-associated focal epilepsy

Science China Life Sciences magazine recently reported on the research results of Tang Beisha's team from Xiangya Hospital of Central South University, Liu Jing Yu's team from the Institute of Neurology of the Chinese Academy of Sciences, and Zhang Luoying's team from Huazhong University of Science and Technology, including Du Shiyue, Zeng Sheng, and Song Li. Epilepsy has a complex etiology with 80% owing a genetic basis.

15 Jun 2023

Newborn genome sequencing project identifies unanticipated disease risks

Genomic sequencing of newborns reveals unanticipated genetic risks, prompting actionable medical interventions and potential life-saving care for infants and their families. This study highlights the value of comprehensive sequencing in newborns for early detection and management of genetic conditions.

7 Jun 2023

Research sheds new light on the genetic architecture of bipolar disorder

Bipolar disorder (BD) is a major psychiatric condition that afflicts about 1% of people. Symptoms of BD include sudden onset of depressive mood with loss of interest which alternates with a manic state of hyperactivity.

5 Jun 2023

Machine learning reveals sex-specific Alzheimer's risk genes

Research explores sex-specific gene associations in Alzheimer's disease using a machine-learning approach. It reveals immune response pathways in both sexes and stress-response pathways in males, highlighting potential biomarkers and therapeutic targets for personalized treatments.

16 May 2023

The Evolution of Molecular Biology

In this interview, Istvan Szatmari, the Head of The Genomic Core Facility at the Department of Biochemistry and Molecular Biology, talks to NewsMed about the evolution of Molecular Biology.

From MGI 4 May 2023

Study sheds new light on the role of somatic mutations in temporal lobe 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

Advanced DNA sequencing technique reveals the reason for COVID-19 related sudden child mortality

Sudden, unexplained child mortality is a tragedy; determining the cause of death is important for improving healthcare and providing loved ones with closure.

27 Apr 2023

MGI and South Australian Genomics Centre Introduce DNBSEQ-T7 to Supercharge Genomics Research in Australia

Brisbane, Australia 27th April 2023 - MGI and South Australian Genomics Centre (SAGC) are proud to announce their joint efforts to advance genomics research in Australia by introducing the country's first commercial ultra-high throughput sequencer DNBSEQ-T7*, through MGI's local distributor Decode Science.

From MGI 27 Apr 2023