Genomics

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Efficient assay system aids rapid genetic diagnosis of mitochondrial diseases

The gene ECHS1 encodes for enoyl-CoA hydratase short-chain 1, a mitochondrial enzyme involved in branched-chain amino acid and fatty acid metabolism.

18 May 2023

Novel computational platform can expand the pool of cancer immunotherapy targets

Researchers at Children's Hospital of Philadelphia (CHOP) and the University of California, Los Angeles (UCLA) have developed a computational platform capable of discovering tumor antigens derived from alternative RNA splicing, expanding the pool of cancer immunotherapy targets.

17 May 2023

Democratizing RNA sequencing: A breakthrough in cost and efficiency

CSEM has supported the Lausanne-based start-up Alithea Genomics in developing a technology capable of processing hundreds of ribonucleic acid (RNA) samples in a single tube, which translates to a significant reduction in reagents and manual effort in the overall workflow.

From CSEM 17 May 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

Advancing Precision Medicine in Argentina, Brazil and Chile – BGI Update

BGI Genomics recently participated in a mission business to South America in April 2023.

From BGI Genomics 16 May 2023

New study reveals a revolutionary approach to studying airborne genetic material

Recently published in PeerJ Life and Environment, researchers successfully use aircraft surveys with novel instrumentation to capture airborne nucleic acids and probe biodiversity in the atmosphere, uncovering surprising findings.

15 May 2023

Creating the Lab of the Future; What does it entail?

As part of our SLAS US 2023 coverage, we speak to Luigi Da Via, Team Leader in Analytical Development at GSK, about the lab of the future, and what it may look like.

From Society for Laboratory Automation and Screening (SLAS) 15 May 2023

New genetic test can reveal an individual's susceptibility to gambling disorder

Studies have shown that our genes may be up to 70% responsible for gambling behavior. Now a new genetic test can identify who may be most predisposed to becoming hooked on gambling.

13 May 2023

Using an intracellular toolkit to map organelle bio-geography in stem cells

Organelles – the bits and pieces of RNA and protein within a cell – play important roles in human health and disease, such as maintaining homeostasis, regulating growth and aging, and generating energy.

12 May 2023

New CRISPR genome-editing technology helps scientists to explore many cancer-linked mutations

Genomic studies of cancer patients have revealed thousands of mutations linked to tumor development.

11 May 2023

New NIH program seeks to discover and catalog the breadth of somatic mosaicism in human tissues

The National Institutes of Health is launching a new program, the Common Fund's Somatic Mosaicism Across Human Tissues Network, that aims to transform our knowledge of how much genetic variation there is in the cells and tissues throughout our bodies.

11 May 2023

Researchers advance the understanding of sperm maturation

Fertility has long been cherished across humankind. Now, in a study published in Nature Communications, researchers from Osaka University have furthered our understanding of sperm maturation.

10 May 2023

Neanderthal genes shape human noses

Research reports a study on the genetics of facial features in Latin Americans using automatic landmarking of 2D portraits and genome-wide association analysis. The study identified novel regions associated with facial features, including a region in 1q32.3 that shows introgression from Neanderthals and influences nasal height.

10 May 2023

New approaches to promote healthspan from an epigenetic perspective

A new review paper was published in Aging (listed by MEDLINE/PubMed as "Aging (Albany NY)" and "Aging-US" by Web of Science) Volume 15, Issue 8, entitled, "How can we modulate aging through nutrition and physical exercise? An epigenetic approach."

10 May 2023

Researchers create new "pangenome" that provides better view of human genome

When it was launched in April 2003, the Human Genome Project helped revolutionize biomedical research by providing scientists a reference map that allowed them to analyze DNA sequences for genetic clues to the origins of a host of diseases.

10 May 2023

Researchers release new high-quality collection of reference human genome sequences

Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.

10 May 2023

MGI launches overseas production line of DNBSEQ-G400* sequencer in Latvia

Riga, Latvia, 8 May 2023 – LATVIA MGI TECH, SIA, ("MGI Latvia") a subsidiary of MGI Tech Co., Ltd. ("MGI"), a company committed to building core tools and technology to lead life science, today announced the official opening of its large-scale production line in Latvia. As MGI's largest regional hub for the European market, the facility based in Riga will see assembly and production of DNBSEQ-G400* gene sequencing instruments and HotMPS** reagents.

From MGI 10 May 2023

MGI empowers the completion of nearly 60,000 samples for the million microbiome of humans project

Through the Million Microbiome of Humans Project, MGI Tech is building a comprehensive microbiome database to support global health and research initiatives.

From MGI 10 May 2023

Evonetix delivers first chip-synthesized DNA to the University of Cambridge

Evonetix, the company bringing semiconductor technology to DNA synthesis, today announced that DNA synthesized using its unique semiconductor chip technology was delivered to the Department of Chemical Engineering and Biotechnology at the University of Cambridge.

From Evonetix 10 May 2023

Game-changers reshaping our world: From mRNA vaccines to AI-powered medicine

The paper covers recent breakthroughs in science and technology that can bring immediate and long-term changes to human life while prioritizing sustainability.

8 May 2023