Whole Genome Sequencing News and Research

RSS

Study defines average human genome and normal genetic disease risk

A new study has characterized the "average" human genome, providing key information on normal human genetic variation and genetic disease risk.

22 Oct 2026

Discovery of new bacteria opens fresh avenues for prostate cancer research

University of East Anglia researchers have discovered the genetic blueprints of 18 new bacterial species collected from prostate cancer patients.

20 Oct 2026

Skin biopsy offers less invasive diagnosis for mitochondrial disease

Researchers at Children's Hospital Colorado (Children's Colorado) and the University of Colorado Anschutz School of Medicine have published one of the largest studies to date evaluating advanced laboratory testing for mitochondrial disease, providing new evidence that a small skin biopsy can often help diagnose these rare and complex conditions without the need for more invasive procedures.

6 Oct 2026

Genome sequencing reveals clues about asymptomatic strep throat carriers

Streptococcal sore throat - strep throat for short - is one of the nastier maladies of childhood, causing fever, swollen tonsils, and the namesake sore throat.

8 Sep 2026

Chemotherapy leaves early genomic fingerprints in childhood tumors

Nearly half of childhood tumors treated with common types of chemotherapy showed detectable DNA changes linked to treatment within 18 months, according to a new international study led by The Hospital for Sick Children (SickKids).

23 Jul 2026

MGI Tech showcases expanding genomics ecosystem at ESHG 2026 with new IVD partnering program and OEM collaborations

At ESHG 2026, MGI Tech presents cutting-edge genomics solutions, emphasizing automation and partnerships to enhance clinical workflows and precision medicine.

From MGI 6 Jul 2026

Scientists identify genes linking air pollution to severe asthma

For many people with asthma, air-quality advisories are harbingers of worsening symptoms. But for reasons science has struggled to explain, the extent to which pollution exacerbates asthma varies widely from person to person.

24 Jun 2026

Viral DNA blood test accurately gauges post-surgery cancer recovery success

A new study by investigators from Mass General Brigham Cancer Institute found that an ultrasensitive blood test called HPV-DeepSeek could help identify which people with HPV-associated head and neck cancer still had cancer cells in their bodies after surgery and may benefit the most from additional treatments. Their results are published in Science Translational Medicine.

11 Jun 2026

Novel technique enables rapid sequencing of rare hantaviruses

Infections by hantaviruses are rare but dangerous, killing 30-40% of infected people. When cases occur, public health officials need rapid, detailed information about the virus to identify the strain and its origin, so they can stop others from being exposed to the disease.

5 Jun 2026

Blood proteins can predict multiple sclerosis years before diagnosis

A new study has revealed a group of blood proteins, that are altered in people who go on to develop multiple sclerosis (MS), in some cases more than a decade before diagnosis.

26 May 2026

JAYseq test delivers rapid genomic profiling for multiple myeloma patients

The Translational Genomics Research Institute (TGen), part of City of Hope, today announced the launch of JAYseqTM, a clinical whole-genome sequencing (WGS) test specifically for multiple myeloma.

7 May 2026

Early genomic testing prevents years of inconclusive visits for pediatric patients

For many families, eight years of uncertainty meant repeated specialist visits, inconclusive genetic tests and the growing fear that a clear answer might never come. For nearly half of the children enrolled in the Telethon Undiagnosed Disease Program (TUDP), that wait is now over.

21 Apr 2026

Scientists find "hidden" pre-cancer signs in advanced esophageal cancer patients

Scientists have found the strongest evidence to date that a condition known as Barrett's esophagus is the starting point for all cases of esophageal adenocarcinoma – the most common type of esophageal cancer in the developed world – even when telltale signs of this pre-cancerous stage are no longer visible.

16 Apr 2026

PRRDetect algorithm could one day revolutionize the treatment of cancer

Researchers have created a "metal detector" algorithm called PRRDetect to hunt down vulnerable tumors, in a development that could one day revolutionize the treatment of cancer.

11 Apr 2026

US scientists sequence 1,000 genomes from measles, a disease long eliminated with vaccines

This week, the Centers for Diseases Control and Prevention posted online its first large tranche of advanced genetic data from measles viruses spreading last year.

2 Apr 2026

Whole genome sequencing improves diagnosis of rare diseases

A collaboration between Karolinska Institutet, Karolinska University Hospital, and SciLifeLab has integrated whole genome sequencing into routine diagnostic investigations for rare diseases at Karolinska University Hospital.

30 Mar 2026

Low-cost interventions reduce neonatal sepsis from Klebsiella pneumoniae

A new study found that a multifaceted infection prevention and control intervention could at least temporarily thwart outbreaks of infections from the Klebsiella pneumoniae bacterium, a leading cause of neonatal sepsis and mortality in Africa and South Asia.

10 Mar 2026

Long-read whole genome sequencing uncovers new genetic variants linked to autism

Researchers at the University of California San Diego have identified new genetic variants associated with autism spectrum disorder (ASD) by using long-read whole genome sequencing (LR-WGS), an emerging approach that reads large sections of the genome at once, making it easier for scientists to find new genetic variants and understand how genetic variants affect the function of a gene.

9 Mar 2026

WashU Medicine receives 80 million to study exceptional longevity

Researchers at Washington University School of Medicine in St. Louis have received an $80 million grant to continue research into the mysteries of exceptional longevity.

23 Feb 2026

Blood test shows promise in forecasting outcomes for germ cell tumors

Can fragments of tumor DNA in the blood predict whether chemotherapy will be effective? Researchers at the Princess Máxima Center investigated this question together with experts from Italy and Slovakia.

19 Feb 2026