Whole Genome Sequencing News and Research

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Tandem Repeat Expansions Linked to Cardiomyopathy Risk, Reveals Study

In the first study to use whole genome sequencing to examine tandem repeat expansions in heart conditions, scientists at The Hospital for Sick Children (SickKids) have laid the groundwork for early detection of and future precision therapies for cardiomyopathy.

28 Feb 2024

Promoter Mutations and Their Association with Autism Risk

The RIKEN Center for Brain Science (CBS) employed genome mutation analysis to investigate the genetics of autism spectrum disorder (ASD) in people and their families. They found that the way a certain type of genetic mutation contributes to the illness differs from that of ordinary mutations.

29 Jan 2024

Study Uncovers Ancestry-Specific Genetic Factors in IBD

The advent of whole genome sequencing technology has prompted an explosion in research into how genetics are associated with disease risk.

17 Nov 2023

New Insights Into Tumor-Immune Interactions Could Lead to More Effective Therapies for Multiple Myeloma

A multicenter study led by researchers at Sylvester Comprehensive Cancer Center at the University of Miami Miller School of Medicine shows how interactions between tumor cells and immune components of the microenvironment can impact treatment responses and outcomes in patients newly diagnosed with multiple myeloma who undergo combination treatments that include targeted immunotherapy.

10 Nov 2023

Research Reveals the Genetic Basis for Song Sparrow Adaptation to Local Climate

Whole genome sequencing of North American song sparrows has revealed the genetic underpinnings for a stunning range of body sizes found throughout the bird's westernmost range-;an adaptation that may make the birds more resilient to climate change.

8 Nov 2023

Researchers Unveil Novel Protein Families and Functions in Microbial Communities

Imagine researchers exploring a dark room with a flashlight, only able to clearly identify what falls within that single beam. When it comes to microbial communities, scientists have historically been unable to see beyond the beam -; worse, they didn't even know how big the room is.

12 Oct 2023

Study Links Autism Gene to Broad Spectrum of Molecular and Cellular Defects

Researchers have used CRISPR gene editing, stem cells and human neurons to study the impact of a gene that is commonly mutated in autism.

6 Oct 2023

Gut Microbes Key to Alleviating Canine Inflammatory Bowel Disease

Researchers at Oregon State University – Cascades have led a study that suggests gut microbes discovered in wild wolves could hold the solution to relieving a prevalent gastrointestinal ailment in domestic dogs.

3 Oct 2023

Detection of Mutations in Children with Brain Tumors

Uppsala University researchers have devised a novel approach for detecting mutations in pediatric brain cancers.

8 Aug 2023

GEMINI Test Uses Genome-Wide Sequencing to Detect Cancer

Novel blood testing technology being developed by researchers at the Johns Hopkins Kimmel Cancer Center that combines genome-wide sequencing of single molecules of DNA shed from tumors and machine learning may allow earlier detection of lung and other cancers.

7 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

Research Details the Food Safety Profile of Genetically Edited Allergen-Free Eggs

Researchers have developed a chicken egg that may be safe for people with egg white allergies. Chicken egg allergies are one of the most common allergies in children.

18 May 2023

NIH Common Fund Selects New York Genome Center as Multi-Grant Recipient Under SMaHT Network

The National Institutes of Health (NIH) Common Fund has selected the New York Genome Center (NYGC) as a multi-grant recipient under the Somatic Mosaicism across Human Tissues (SMaHT) Network.

15 May 2023

Whole genome sequencing might help better assess tumor evolution

To develop the most efficacious, personalized treatment plans for patients with Hodgkin lymphoma or other cancers, researchers and clinicians must first understand the genetic changes that cause cancer to develop.

23 Feb 2023

High diversity in T-cell receptor genes explains diverse response to infections

Researchers from Karolinska Institutet have demonstrated that the genes that encode the T cell receptors change significantly between individuals and communities, which could help explain why people react differently to certain diseases.

17 Feb 2023

Research provides insight into the regulation of heartbeats

UT Southwestern Medical Center researchers have mapped gene control elements in specialized cardiac cells responsible for coordinating heartbeats. The findings of the genome exploration study, published in The Journal of Clinical Investigation, provide insight into how heartbeats are regulated and could impact diagnosis and risk prediction for a variety of common arrhythmias.

14 Feb 2023