Genomic Sequencing News and Research

RSS

Advanced Sequencing Uncovers Cause of Rare Mitochondrial Encephalopathy

Mitochondrial diseases are among the most prevalent hereditary metabolic disorders, known to occur in one out every 5000 births.

19 Nov 2024

AI Tool Predicts Gene Activity from Tumor Images to Guide Treatment

To determine the type and severity of a cancer, pathologists typically analyze thin slices of a tumor biopsy under a microscope.

15 Nov 2024

Review Explores Genetic Basis of Flower Color Diversity in Rhododendron

A research team has made strides in uncovering the genetic foundations of flower color variation within the Rhododendron genus.

17 Apr 2024

New Technology Unveils Secrets of Fragile Marine Creatures in Minutes

A University of Rhode Island professor of Ocean Engineering and Oceanography, along with a multidisciplinary research team from multiple institutions, successfully demonstrated new technologies that can obtain preserved tissue and high-resolution 3D images within minutes of encountering some of the most fragile animals in the deep ocean.

18 Jan 2024

Genomic Sequencing Reveals Songbird’s Secrets

Researchers have deciphered the genetic foundation responsible for the striking diversity in body size that is evident among song sparrows, a cherished and widely recognized species of North American songbirds.

8 Nov 2023

Phylogenomics Provide Insight About Mosquitoes’ Previous Host Use

The mapping of the mosquito’s tree of life by North Carolina State University researchers and international partners is a significant step in comprehending key characteristics, such as how the insects select their hosts, feed on blood, and transmit disease.

19 Oct 2023

Flinders Researchers Break Ground by Understanding the Role of Microbes in Whale Sharks

Loss of habitat and human activities such as fishing and shipping pose a grave threat to wildlife but diseases driven by the smallest organisms in the ocean are a less understood side of marine conservation.

19 Sep 2023

Whale Shark Health Relies on Habitat, Diet – and the Right Mix of Microbes

31 Aug 2023

Flinders University Scientists Study Whale Shark Microbiomes

23 Aug 2023

Whole Genome Sequencing More Effective Than Targeted Gene Sequencing in Detecting Genetic Disorders

A new national study, led by researchers at Tufts Medical Center in Boston, has found whole genome sequencing (WGS) to be nearly twice as effective as a targeted gene sequencing test at identifying abnormalities responsible for genetic disorders in newborns and infants.

12 Jul 2023

A High-Throughput Assay for Identifying and Validating ECHS1 Enzyme Genetic Variants

The enzyme variations of mitochondrial enoyl-CoA hydratase short-chain 1 (ECHS1) are dysfunctional. In Japan, they are mostly responsible for mitochondrial disease.

19 May 2023

Interpreting Mutations in Disease Genes and Improving Clinical Decision-Making

DeMAG is a new method that was developed by Max Planck and Harvard’s research team. It is a new technique that has been shared as an open-source web server (demag.org) to assist interpret mutations in disease genes and enhance clinical decision-making.

26 Apr 2023

Genes can be used to better predict the likelihood of kidney cancer recurrence

A decade-long international study into kidney cancer has shown that doctors can predict the likelihood of a patient's disease returning by looking at DNA mutations in their tumors.

24 Feb 2023

GA4GH calls for new Driver Projects

The Global Alliance for Genomics and Health (GA4GH) has issued a call for new Driver Projects to join a rapidly expanding community that boosts responsible genomic data sharing to benefit human health.

22 Feb 2023

Analyzing progenitor fate and dynamics long after embryonic development

According to Johns Hopkins Medicine researchers, they have devised a computer model called quantitative fate mapping that looks back in time to track the origin of cells in a fully grown organism.

14 Dec 2022

New guidelines for genomic consent benefit patients and researchers

How can Canada maximize the benefits of human genomic sequencing to deepen knowledge of disease? For researchers and decision-makers in this expanding field, new guidance published in CMAJ (Canadian Medical Association Journal) establishes the essential components for obtaining patient consent.

16 Nov 2022

Mount Sinai and Regeneron Genetics Center launch a large-scale genome sequencing project

Mount Sinai Health System and the Icahn School of Medicine at Mount Sinai have launched a new human genome sequencing research project called the Mount Sinai Million Health Discoveries Program with the Regeneron Genetics Center (RGC), part of the industry-leading, New York-based biotechnology company Regeneron.

12 Aug 2022