Genomic Sequencing News and Research

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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

Origin of chromatin in ancient microbes happened 1–2 billion years ago, study reveals

Nature’s storage solution originally emerged in ancient microbes living on Earth around one and two billion years ago, according to researchers at the Center for Genomic Regulation (CRG).

10 Jun 2022

Study underscores the crucial role of genomic profiling in diagnosing and grading brain tumors

Patients diagnosed with a type of brain tumor survived for longer when they were treated aggressively with surgery, radiation and chemotherapy.

22 Apr 2022

Researchers investigate genomic data discrepancies among racial groups

The Cancer Genome Atlas, one of the biggest cancer research databases, was used by Mayo Clinic researchers to investigate disparities in genomic data quality.

21 Mar 2022

Research says 14-day travel quarantine in England helped prevent the spread of COVID-19

Research says that the 14-day quarantine measures imposed in summer 2020 on travelers returning to England helped in preventing the spread of COVID-19.

25 Feb 2022

Scientists on the verge of understanding how climate adaptation happens in plants

A century after scientists first noted that the environment contributes to the evolution of adaptive differences among plant populations, scientists are on the verge of figuring out how that adaptation happens -; by combining results from huge "common garden" experiments with genomic sequencing.

From Penn State University 9 Feb 2022

Study discusses outcomes of disclosing actionable genetic results to research participants

Over 120,000 patients have enrolled in the Mass General Brigham Biobank, offering access to crucial information related to their health history.

10 Nov 2021

Jumpcode Genomics collaborates with TGen to investigate the genomic epidemiology of SARS-CoV-2

Jumpcode Genomics, a genome technology platform company focused on improving the understanding of human biology, announced today a collaboration with the Translational Genomics Research Institute (TGen), an affiliate of City of Hope, to aid investigations into the genomic epidemiology of SARS-CoV-2, the virus that causes COVID-19.

14 Sep 2021

Genomic surveillance is vital to achieve effective mitigation and containment of COVID-19

Although the development and increasingly widespread availability of effective and safe vaccines provides the greatest hope for the future recovery from the increasingly devastating COVID-19 pandemic, genomic surveillance is emerging as a vital necessity to achieve effective mitigation and containment.

19 Aug 2021

Researchers identify genetic variant discrepancies between two genome references

Advances in technology have supported the development of updated reference genomes used for sequencing ever since the Human Genome Project.

16 Jun 2021

New study assesses total economic impact of human genomics

Human genetics and genomifefcs contributed $265 billion to the U.S. economy in 2019 and has the potential to drive significant further growth given major new areas of application, according to a new report issued today by the American Society of Human Genetics (ASHG).

19 May 2021