Exome Sequencing News and Research

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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

Sex-specific differences in the risk and resilience for Alzheimer's disease

Two-thirds of people living with Alzheimer's disease in the United States are women, according to the Alzheimer's Association's 2019 Alzheimer's Disease Facts & Figures report.

19 Apr 2023

Study endeavors to strengthen genomic diagnosis of rare pediatric diseases in the United Kingdom and Ireland

Researchers performed a large-scale sequencing study using data gathered over a decade from a previous study.

14 Apr 2023

DPE analysis may help improve the diagnosis and management of colorectal cancer

A new editorial paper was published in Oncoscience (Volume 10) on March 23, 2023, entitled, "New method of clustering colorectal cancer patients using differential presence of exons (DPE) sequencing."

7 Apr 2023

Advancements in understanding and treating breast cancer

Researchers describe recent advancements in breast cancer research.

26 Mar 2023

MGI supports a national genomic sequencing project that aims to build the largest genetic database in Brazil

MGI Tech Co. Ltd. (MGI), a company committed to building core tools and technology to lead life science, in partnership with Pensabio - a Brazilian distribution company, brings to Brazil a new technology to support a large national genomic sequencing project with sequencers.

From MGI 10 Mar 2023