Genomics

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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

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 method could make single-cell RNA sequencing more accessible to patients

To improve therapies for cancer and other diseases, researchers strive to identify tissue-specific therapeutic targets and diagnostic biomarkers in every patient.

22 Aug 2023

Genetically diverse mouse models offer new insights into Alzheimer's disease

A new study by Indiana University School of Medicine researchers uses more genetically diverse mouse models to study the accumulation and spread of abnormal tau protein deposits in the brain - a known sign of Alzheimer's disease and several other neurodegenerative diseases.

22 Aug 2023

A pilot cohort study on infants with new-onset epilepsy examines the clinical utility of rapid genome sequencing

The clinical impact of rapid genome sequencing of infants with new-onset epilepsy.

22 Aug 2023

Non-traditional gene fusions in luminal breast cancer: A new target for therapy

A new editorial paper was published in Oncotarget's Volume 14 on June 12, 2023, entitled, "Are cis-spliced fusion proteins pathological in more aggressive luminal breast cancer?"

21 Aug 2023

Genetic diversity important for plant survival in changing climate

In a recent study in PNAS, a team of researchers at the Max Planck Institute for Chemical Ecology in Jena, Germany, shows that a single mutation that has immediate effects on plant fitness is maintained over the long term in natural plant populations, despite theories predict the contrary.

21 Aug 2023

Study sheds light on how SARS-CoV-2 virus switches between replication and packaging

Immediately after the infection of a cell in the throat or lungs, the SARS-CoV-2 virus works very hard to replicate, using the human cell's metabolic pathways to produce its proteins and make sure that its genetic material (the RNA genome) is copied.

21 Aug 2023

Common genetic variants reduce clopidogrel effectiveness in British South Asians

Clopidogrel is a commonly prescribed medication used to prevent further heart attacks after an initial event. It needs to be activated in the body to be effective.

21 Aug 2023

New genes linked to breast cancer risk identified

A large-scale international collaborative study lead by Professor Jacques Simard from Université Laval and Professor Douglas Easton at the University of Cambridge, UK, has identified new genes associated with breast cancer that could eventually be included in tests to identify women at increased risk.

18 Aug 2023

Genomics

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

AI-powered protein score predicts major atherosclerotic cardiovascular disease events

New method could make single-cell RNA sequencing more accessible to patients

Genetically diverse mouse models offer new insights into Alzheimer's disease

A pilot cohort study on infants with new-onset epilepsy examines the clinical utility of rapid genome sequencing

Non-traditional gene fusions in luminal breast cancer: A new target for therapy

Genetic diversity important for plant survival in changing climate

Study sheds light on how SARS-CoV-2 virus switches between replication and packaging

Common genetic variants reduce clopidogrel effectiveness in British South Asians

New genes linked to breast cancer risk identified

Scientists discover potential cause of genetic mutations linked to Huntington's disease

STING gene variant linked to increased risk of severe group A strep infections

Evolutionary roadmap revealed: How SARS-CoV-2 adapted and evolved over three years

Pairing top-down and bottom-up approaches to gain insights into the origin of life

Scientists identify key proteins driving cancer across multiple tumor types

New insights into severe obesity genetics: Evidence from adults seeking treatment reveals intriguing oligogenic patterns

Exploring DNA methylation biomarkers of multiple sclerosis

How microRNA is transforming science: From discovery to diagnostics

Advancing benzodiazepine detection

The Surgeon-Scientist Pioneering Regenerative Engineering

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