Whole Genome Sequencing News and Research

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Genetic study reveals how DNA repeats expand with age

An analysis of genetic data from over 900,000 people shows that certain stretches of DNA, made up of short sequences repeated over and over, become longer and more unstable as we age.

7 Jan 2026

New method can help better assess precision genome editing technology

Scientists and physicians can better assess precision genome editing technology using a new method made public today by St. Jude Children's Research Hospital. Significant amounts of time and resources spent improving CRISPR gene editing technology focus on identifying small off-target sites that pose a safety risk, which is also technically challenging.

2 Jan 2026

Plasmid-borne resistance drives global expansion of dangerous Klebsiella strains

A recent study published in Engineering has shed light on the transmission and epidemiological trends of tmexCD1-toprJ1-positive Klebsiella pneumoniae across various ecological niches, highlighting the potential threat this antibiotic-resistant bacterium poses to global public health.

31 Dec 2025

Mpox clade Ib transmitted in a healthcare setting outside Africa

Mpox is a viral disease usually transmitted from animals to humans and symptoms include fever and skin rashes. In 2023, a new variant of monkeypox virus (MPXV), called clade Ib, emerged in Kamituga in the Democratic Republic of the Congo.

19 Dec 2025

UK Biobank releases the world’s largest metabolomic dataset for disease research

UK Biobank has today [Thursday 20 November] released the final set of data on nearly 250 metabolites – the molecules in our blood produced by our bodies as we go about our lives – in half a million volunteers.

20 Nov 2025

AI analysis of biopsy slides predicts rectal cancer treatment response

Artificial intelligence (AI) can predict how well patients with rectal cancer will respond to treatment by analyzing standard tissue samples taken during diagnosis, finds a new study from researchers at UCL and UCLH.

19 Nov 2025

Landmark Japanese genome cohort reveals best practices for managing massive DNA databases

At a time when large-scale human genome analysis was not yet common, the Tohoku Medical Megabank Organization (ToMMo) launched its genome cohort study.

13 Nov 2025

New approach revives DNA from historic medical tissues

Research institutions around the world house valuable genetic information that could help unlock countless medical mysteries. However, because DNA degrades over time, it is difficult for researchers to analyze DNA samples older than 20 years using conventional analytical approaches.

13 Nov 2025

Whole genome sequencing reveals how much human heritability we can finally explain

Whole genome sequencing in nearly 500,000 UK Biobank participants shows that observed rare and common variants now explain about 88% of family based heritability for many human traits. By partitioning heritability into rare versus common and coding versus non-coding components, the study narrows where missing heritability still hides and highlights traits that remain only partly understood.

13 Nov 2025

Advancements in molecular and genetic testing transform brain tumor care

Molecular and genetic testing has become a game-changer in brain tumour care - shaping diagnosis, guiding treatments and opening doors to new therapies.

12 Nov 2025

Northwestern scientists create new genetic risk score to improve prediction of arrhythmia

In a new Northwestern Medicine study, scientists have developed a more precise genetic risk score to determine whether a person is likely to develop arrhythmia, an irregular heartbeat that can lead to serious conditions such as atrial fibrillation (AFib) or sudden cardiac death.

11 Nov 2025

New genomic method enables multiple people with rare conditions to receive diagnoses

A new genomic method has enabled multiple people with rare conditions to receive diagnoses that were previously unattainable by identifying complex structural genetic changes that are often missed by standard tests.

3 Nov 2025

Study reveals how melanoma evolves to resist immunotherapy

A study led by UCLA Health Jonsson Comprehensive Cancer Center investigators reveals how melanoma, the deadliest form of skin cancer, evolves to resist immunotherapy and identifies a potential strategy to prevent or reverse that resistance.

31 Oct 2025

Bowhead whale’s secret to long life revealed: precision DNA repair may hold clues for human aging

Researchers discovered that bowhead whales achieve extraordinary longevity and cancer resistance through highly efficient and precise DNA repair mechanisms. A whale-specific protein, CIRBP, enhances genome stability even in human cells, revealing a potential pathway to strengthen DNA repair and slow aging.

30 Oct 2025

New breakthrough enables whole genome sequencing in hours

Boston Children's Hospital, along with Broad Clinical Labs and Roche Sequencing Solutions, has demonstrated that rapid genomic sequencing and interpretation are achievable in a matter of hours.

16 Oct 2025

How genomic screening in newborns found 16 hidden disorders standard tests overlooked

Genomic newborn screening using whole-genome sequencing identified 1.6% of infants with high-chance, treatable genetic conditions, far beyond the capacity of standard biochemical screening. The BabyScreen+ study demonstrated clinical impact, cascade diagnoses, and strong parental acceptance, while highlighting challenges in scalability and equity.

13 Oct 2025

Nanoparticle vaccine shows promise in preventing multiple cancers in mice

A study led by University of Massachusetts Amherst researchers demonstrates that their nanoparticle-based vaccine can effectively prevent melanoma, pancreatic and triple-negative breast cancer in mice.

9 Oct 2025

Whole genome sequencing may guide care for thousands of breast cancer patients

Whole genome sequencing offered to breast cancer patients is likely to identify unique genetic features that could either guide immediate treatment or help match patients to clinical trials for over 15,000 women a year, say scientists at the University of Cambridge.

7 Oct 2025

NIH funds multi-state pilot for genome sequencing in newborn screening

Mass General Brigham and Ariadne Labs, alongside Boston Children's Hospital, Albert Einstein College of Medicine, the Association of Public Health Laboratories (APHL), Case Western Reserve University, Baylor College of Medicine, and sequencing partners GeneDx and Illumina, today announced the launch of BEACONS (Building Evidence and Collaboration for GenOmics in Nationwide Newborn Screening), the nation's first multi-state genomic newborn screening initiative.

2 Oct 2025

Study points toward earlier and more accurate detection of ALS

A new study applying multi-omics techniques and machine learning identified 33 plasma proteins that differ significantly in patients with amyotrophic lateral sclerosis (ALS).

29 Sep 2025

Whole Genome Sequencing News and Research

Genetic study reveals how DNA repeats expand with age

New method can help better assess precision genome editing technology

Plasmid-borne resistance drives global expansion of dangerous Klebsiella strains

Mpox clade Ib transmitted in a healthcare setting outside Africa

UK Biobank releases the world’s largest metabolomic dataset for disease research

AI analysis of biopsy slides predicts rectal cancer treatment response

Landmark Japanese genome cohort reveals best practices for managing massive DNA databases

New approach revives DNA from historic medical tissues

Whole genome sequencing reveals how much human heritability we can finally explain

Advancements in molecular and genetic testing transform brain tumor care

Northwestern scientists create new genetic risk score to improve prediction of arrhythmia

New genomic method enables multiple people with rare conditions to receive diagnoses

Study reveals how melanoma evolves to resist immunotherapy

Bowhead whale’s secret to long life revealed: precision DNA repair may hold clues for human aging

New breakthrough enables whole genome sequencing in hours

How genomic screening in newborns found 16 hidden disorders standard tests overlooked

Nanoparticle vaccine shows promise in preventing multiple cancers in mice

Whole genome sequencing may guide care for thousands of breast cancer patients

NIH funds multi-state pilot for genome sequencing in newborn screening

Study points toward earlier and more accurate detection of ALS

The art of CRISPR: The power and promise of gene editing eBook

How ELRIG Is Helping Mid-Career Scientists Navigate Leadership, Career Change and Redundancy

The role of UV-Vis in biopharma QC

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