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Hackensack Meridian Health study finds vaccination critical to preventing severe COVID-19

The SARS-CoV-2 virus swept across the globe at the beginning of 2020, and one of the earliest and hardest-hit areas of the United States was New Jersey.

28 Aug 2023

A comprehensive online resource allows for the exploration of interactions between mutational signatures and topographical features across human cancer

An online resource for studying the relationship between mutational signatures and topographical characteristics across human cancer.

28 Aug 2023

Beyond health records: Deep learning enhances disease diagnosis via image-based phenotyping

Researchers explored the use of image-based phenotyping based on dual-energy X-ray absorptiometry (DXA) scans.

28 Aug 2023

How does GERD increase the risk of heavy menstrual bleeding?

Study explores the potential causal link between GERD, a common gastrointestinal issue, and the risk of heavy menstrual bleeding (HMB) in women. The analysis suggests a potential causal relationship, although the results were inconclusive, pointing to the complexity of hormonal interactions in both conditions.

27 Aug 2023

Can vitamins really fight cancer? New study uncovers surprising links between micronutrients and cancer risk

The study uses Mendelian randomization to examine the relationship between 14 micronutrients and 22 cancer outcomes, finding significant associations between higher magnesium and vitamin B12 levels and increased risks of breast and colorectal cancers, respectively.

27 Aug 2023

Researchers discover how proteins regulate 'treadmilling' in cells

Researchers at the Centre for Genomic Regulation (CRG) have discovered how proteins work in tandem to regulate 'treadmilling', a mechanism used by the network of microtubules inside cells to ensure proper cell division.

25 Aug 2023

Two small molecule inhibitors can help improve precision, efficiency of CRISPR-Cas9 gene editing

A new study published in Nature Communications demonstrates how small molecule inhibitors can be used to improve the precision and efficiency of CRISPR-Cas9 gene editing.

25 Aug 2023

Genetics and environment influence immune responses to SARS-CoV-2

During the COVID-19 pandemic, the clinical spectrum observed among people infected with SARS-CoV-2 ranged from asymptomatic carriage to death.

24 Aug 2023

Women with pre-eclampsia undergo accelerated aging during pregnancy

Pre-eclampsia, a life-threatening surge in blood pressure, is an enigmatic condition. Each year, it causes the deaths of more than 70,000 women worldwide. Because scientists do not know what causes it, they lack targeted strategies to treat it.

24 Aug 2023

Researchers find link between topography of the genome and presence of cancer mutations

Researchers at the University of California San Diego have uncovered a connection between the topography of the human genome and the presence of mutations in human cancer.

24 Aug 2023

Largest genetic study of heart failure finds new risk factors

In a new study co-led by investigators at the United States Department of Veterans Affairs and Brigham and Women's Hospital, a founding member of the Mass General Brigham healthcare system, a global team of scientists conducted one of the largest genetic association studies on heart failure to date.

24 Aug 2023

Disruption of FOXA2 expression in congenital hyperinsulinism: The role of chromosome 20p11.2 deletions

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24 Aug 2023

New gene variant linked to Parkinson's disease found in people of African ancestry

A gene variant found almost exclusively in the genomes of people of African ancestry increases the risk of developing Parkinson's disease, according to an international study of nearly 198,000 participants with this genetic background.

23 Aug 2023

First complete sequences of multiple human Y chromosomes shed light on its evolution and biology

Highly challenging to sequence and long overlooked, the human Y chromosome's contributions to health and disease remain largely unknown.

23 Aug 2023

Long-read sequencing reveals new details of Bartter syndrome type 3

Bartter syndrome type 3 is the result of several structural variants in the genome. By using long-read sequencing, Janine Altmüller and her team from the Max Delbrück Center, the BIH and University Hospital Cologne mapped out the rare disease in unprecedented detail.

23 Aug 2023

Y chromosome fully mapped for the first time

What was once the final frontier of the human genome - the Y chromosome - has just been mapped out in its entirety.

23 Aug 2023

The value of whole-exome sequencing as a first-tier genetic test in the diagnosis of skin disorders

The genetic etiology by whole-exome sequencing (WES).

23 Aug 2023

Scientists find way to 'press self-destruct button' in gastric cancer associated with Epstein-Barr Virus

Now, scientists at The Wistar Institute have discovered a potential target for gastric cancers associated with Epstein-Barr Virus; study results were published in the journal mBio.

22 Aug 2023

AI-powered protein score predicts major atherosclerotic cardiovascular disease events

In a large retrospective analysis using measurements of thousands of plasma proteins in primary and secondary event populations, scientists from deCODE genetics a subsidiary of Amgen and collaborators from USA, Denmark and Iceland, reported today in The Journal of the American Medical Association (JAMA) how they employed AI to develop a protein score to predict major atherosclerotic cardiovascular disease events (ASCVD).

22 Aug 2023

New prognostic risk signature for kidney renal clear cell carcinoma identified

Announcing a new publication for Acta Materia Medica journal. Cuproptosis is a newly identified specific form of programmed cell death.

22 Aug 2023

Genome News and Research

Hackensack Meridian Health study finds vaccination critical to preventing severe COVID-19

A comprehensive online resource allows for the exploration of interactions between mutational signatures and topographical features across human cancer

Beyond health records: Deep learning enhances disease diagnosis via image-based phenotyping

How does GERD increase the risk of heavy menstrual bleeding?

Can vitamins really fight cancer? New study uncovers surprising links between micronutrients and cancer risk

Researchers discover how proteins regulate 'treadmilling' in cells

Two small molecule inhibitors can help improve precision, efficiency of CRISPR-Cas9 gene editing

Genetics and environment influence immune responses to SARS-CoV-2

Women with pre-eclampsia undergo accelerated aging during pregnancy

Researchers find link between topography of the genome and presence of cancer mutations

Largest genetic study of heart failure finds new risk factors

Disruption of FOXA2 expression in congenital hyperinsulinism: The role of chromosome 20p11.2 deletions

New gene variant linked to Parkinson's disease found in people of African ancestry

First complete sequences of multiple human Y chromosomes shed light on its evolution and biology

Long-read sequencing reveals new details of Bartter syndrome type 3

Y chromosome fully mapped for the first time

The value of whole-exome sequencing as a first-tier genetic test in the diagnosis of skin disorders

Scientists find way to 'press self-destruct button' in gastric cancer associated with Epstein-Barr Virus

AI-powered protein score predicts major atherosclerotic cardiovascular disease events

New prognostic risk signature for kidney renal clear cell carcinoma identified

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

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

Expanding access to NMR with the Fourier 80 Duo

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