Whole Genome Sequencing News and Research

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Lack of Genetic Diversity in Reference Groups Leads to Misdiagnoses

A new study has uncovered that a gene variant common in Oceanian communities was misclassified as a potential cause of heart disease, highlighting the risk of the current diversity gap in genomics research which can pose a greater risk for misdiagnosis of people from non-European ancestries.

8 Mar 2025

Scientists Decode Migration Patterns of Painted Lady Butterflies

Painted lady butterflies are world travelers. The ones we encounter in Europe fly from Africa to Sweden, ultimately returning to areas north and south of the Sahara.

5 Feb 2025

Mapping the Human Virome to Uncover Links Between Viruses and Health

You, my friend, are what scientists call a "holobiont"- an organism made up of human cells and the multiplicity of microscopic species living inside you and on your body.

27 Jan 2025

UK Biobank to Study Protein Changes Across 600,000 Samples

UK Biobank has today announced the launch of the world's most comprehensive study of the proteins circulating in our bodies, which will transform the study of diseases and their treatments.

10 Jan 2025

Study Links MICOS10 Gene Defect to Mitochondrial DNA Depletion Syndrome

Mitochondrial DNA depletion syndrome (MTDPS) is a rare genetic disorder characterized by a marked decrease in mitochondrial DNA (mtDNA).

27 Nov 2024

Novel Genetic Variant Associated with Severe Mitochondrial Dysfunction

The rare hereditary condition known as mitochondrial DNA depletion syndrome (MTDPS) is typified by a significant reduction in mitochondrial DNA (mtDNA).

26 Nov 2024

Discovery of Large Tandem Duplications Opens New Avenues for Cancer Treatment

Cancer researchers at the University of Chicago and the University of California, San Francisco (UCSF) have discovered that mutations in certain genes can lead to the accumulation of DNA errors, resulting in a specific type of genetic change known as large tandem duplications (TDs) that can arise from the collision of two critical cellular processes: transcription and DNA replication.

21 Nov 2024

Dovetail Genomics Launches LinkPrep Technology for Enhanced Genetic Variant Discovery

Dovetail Genomics, a leading innovator in genomic solutions, today announces the commercial launch of its LinkPrep™ technology for genetic variant detection at American Society of Human Genetics (ASHG) conference.

4 Nov 2024

Fabric Genomics partners with Intermountain Children’s Health to enhance precision diagnosis of infants and children using whole genome sequencing from Broad Clinical Labs

Fabric Genomics, the leader in artificial intelligence (AI)-powered next generation sequencing interpretation, is announcing a new partnership with Intermountain Children’s Health to analyze the whole genomes of children sequenced by the Broad Clinical Labs to help speed diagnosis of kids who may have genetic diseases.

From Fabric Genomics 30 Oct 2024

descendantsDNA, Inc. engages Broad Clinical Labs and Fabric Genomics for genomic services to support human longevity

descendantsDNA, Inc. is pleased to announce a new agreement with Broad Clinical Labs (BCL) to advance human longevity through cutting-edge genomics.

From Fabric Genomics 30 Oct 2024

Genetic Study Offers Hope for the Endangered Oriental Stork

A new genomic study of the endangered Oriental Stork reveals that the population's genetic health is still surprisingly strong, with high genetic diversity and low levels of inbreeding.

22 Oct 2024

Whole Genome Sequencing Reveals New Insights into Providencia rustigianii

Salmonella and E. coli are well-known bacteria that cause food poisoning, but less understood are species of Providencia, another causative agent of serious symptoms.

18 Oct 2024

Genetic Discovery Reveals Key to Beetle Head Shape Diversity

A research team led by Associate Professor Junji Konuma of Toho University and Professor Teiji Sota of Kyoto University has discovered the genetic background of the morphological variation in the snail-eating carabid beetle, Carabus blaptoides.

9 Sep 2024

Decoding the Infant Microbiome's Three Pioneers

Researchers discovered that newborn newborns had one of three pioneer bacteria in their stomach immediately after birth, one of which might be exploited to generate novel personalized infant therapeutic probiotics.

9 Sep 2024

Multispecies Transmission of Avian Flu Virus Includes Dairy Cattle, Cats, and Raccoons

A viral spillover of the highly pathogenic avian influenza virus belonging to the hemagglutinin 5 neuraminidase 1 (H5N1) 2.3.4.4b clade among herds of dairy cattle.

5 Aug 2024

Geographic Origin Plays Key Role in Tuberculosis Infection, Harvard Study Finds

For some forms of tuberculosis, the chances that an exposed person will get infected depend on whether the individual and the bacteria share a hometown, according to a new study comparing how different strains move through mixed populations in cosmopolitan cities.

2 Aug 2024

Study Reveals Widespread Gene Misbehavior in Healthy Humans

Scientists have uncovered that ‘gene misbehaviour’ – where genes are active when they were expected to be switched off – is a surprisingly common phenomenon in the healthy human population.

29 Jul 2024

Cost-Effective Array Sheds Light on Imprinted Gene Regulation

Researchers from North Carolina State University have developed an array that assesses methylation levels of genes located in imprint control regions (ICRs) within the human genome. The array represents a cost-effective, efficient method for exploring potential links between environmental exposures and epigenetic dysregulation during the early developmental origins of diseases and behavioral disorders.

26 Jul 2024

Dairy Cattle Become Hosts for Avian Flu Transmission

A new study reveals evidence that avian influenza has spilled over from birds to dairy cattle across several U.S. states, resulting in mammal-to-mammal transmission between cows and from cows to cats and a raccoon.

25 Jul 2024

New Insights into the Mechanisms of Gene Misbehavior

Researchers have discovered that a startlingly widespread occurrence in the healthy human population is "gene misbehavior," or the state in which genes are active when they should be inactive.

25 Jul 2024