Whole Genome Sequencing News and Research

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Utah State biologist investigates chromosomal changes driving evolution

How do living things evolve? What is the myriad of processes by which generic variations in a population affect organisms' survival and allow reproduction in an ever-changing environment?

19 Jun 2025

When old diseases find new ways in: Europe’s latest diphtheria outbreak explained

A large multicountry outbreak of toxigenic Corynebacterium diphtheriae occurred among migrants entering Europe in 2022, driven primarily by cutaneous infections and involving multiple genetic lineages. Despite the unprecedented surge, transmission to resident populations was limited, but rising antimicrobial resistance and delayed treatment highlight ongoing public health risks.

10 Jun 2025

Genetic study reveals why some children respond better to myopia lenses

Myopia, or nearsightedness, has reached epidemic levels worldwide, particularly in East and Southeast Asia.

5 Jun 2025

Early gut bacteria may help protect babies from respiratory infections

A baby's makeup of gut bacteria - their microbiome - which starts to form as soon as they are born, could help protect against viral infections later in childhood, a new study suggests.

5 Jun 2025

Wilms tumor found to contain millions of genetic changes

Researchers have uncovered that some childhood cancers have a substantially higher number of DNA changes than previously thought, changing the way we view children's tumours and possibly opening up new or repurposed treatment options.

29 May 2025

Genomic analysis reveals how bird flu jumped from wild birds to poultry and people

Researchers identified a novel genotype (D1.1) of highly pathogenic avian influenza H5N1 spreading among wild birds, poultry, and a human in British Columbia, Canada, during fall 2024. Genomic analysis reveals the virus arose from reassortment between Eurasian and North American strains, with implications for surveillance and control.

27 May 2025

New AI blood test tracks pancreatic cancer treatment response

An artificial intelligence technique for detecting DNA fragments shed by tumors and circulating in a patient's blood, developed by Johns Hopkins Kimmel Cancer Center investigators, could help clinicians more quickly identify and determine if pancreatic cancer therapies are working.

22 May 2025

New multiple myeloma-like score assesses disease severity and risk of progression to active cancer

A new risk assessment score developed by researchers at Dana-Farber Cancer Institute and the Broad Institute of MIT and Harvard reveals how multiple myeloma, a form of blood cancer, begins and progresses from precancerous to malignant states by tracing DNA mutations.

21 May 2025

New blood test detects HPV-linked head and neck cancer with unmatched accuracy

A new liquid biopsy blood test could help detect cases of human papillomavirus (HPV)-associated head and neck cancers with significantly higher accuracy than currently used methods, including before patients develop symptoms, according to new Mass General Brigham research.

20 May 2025

DiffInvex identifies key genes driving chemotherapy resistance

Just as species adapt over generations, our body's cells accumulate DNA changes throughout life. Most are harmless, yet a few "driver" mutations give a cell a competitive edge and can spark cancer.

13 May 2025

MGI tech celebrates 10 years of DNBSEQ™ technology: driving genomics forward with speed, scale, and accessibility

MGI's DNBSEQ™ technology redefines genomics, delivering exceptional sequencing performance and enabling multi-omics applications for diverse scientific fields.

From MGI 15 Apr 2025

New blood test method improves accuracy of cancer detection

A new, error-corrected method for detecting cancer from blood samples is much more sensitive and accurate than prior methods and may be useful for monitoring disease status in patients following treatment, according to a study by Weill Cornell Medicine and New York Genome Center investigators.

11 Apr 2025

Researchers uncover a new genetic cause of neurodevelopmental disorders

A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic cause of neurodevelopmental disorders (NDDs).

10 Apr 2025

Rapid growth of blood cancer driven by a single genetic ‘HIT’

A new study has unveiled when chronic myeloid leukaemia, a type of cancer that affects the blood and bone marrow, arises in life and how fast it grows.

10 Apr 2025

Genetic fusion drives unexpectedly fast growth in chronic myeloid leukemia

A new study has unveiled when chronic myeloid leukemia, a type of cancer that affects the blood and bone marrow, arises in life and how fast it grows.

9 Apr 2025

Genetic breakthrough in psychiatry using long-read genomic sequencing

In a manuscript published today in the American Journal of Psychiatry titled Long-Read Genome Sequencing in Clinical Psychiatry: RFX3 Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral Decompensation, authors describe how they leveraged long-read genomic sequencing (LRS) to make a genetic diagnosis in a17-year-old male with autism spectrum disorder, intellectual disability, and acute behavioral decompensation that would not have been possible by standard methods.

9 Apr 2025

Genetic pathways explain why some people grow tall and others stay short

A landmark review in Nature Reviews Genetics dissects the rare and common genetic variants that shape human height. The paper explains how monogenic and polygenic factors converge on key growth pathways and influence disease risk.

7 Apr 2025

Scientists make breakthrough in understanding the causes of spina bifida

Scientists at Rady Children's Institute for Genomic Medicine, and the Department of Neurosciences and Pediatrics at the University of California, San Diego, have made a significant breakthrough in understanding the causes of spina bifida, a serious birth defect affecting thousands of newborns each year.

1 Apr 2025

Research provides a comprehensive genomic and epigenomic landscape of ICE syndrome

Iridocorneal endothelial (ICE) syndrome is a rare, irreversibly blinding ocular disorder with an unknown etiology. Lack of targeted effective drugs, inadequate disease prognosis, and high relapse rates post-surgery are the current challenges of ICE.

28 Mar 2025

City of Hope researchers uncover the two-step process of tumor formation

Researchers at City of Hope, one of the largest and most advanced cancer research and treatment organizations in the U.S. with its National Medical Center named top 5 in the nation for cancer by U.S. News & World Report, have found that cell mutations are necessary but not always sufficient for tumors to form.

26 Mar 2025