Genomics

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Scientists reveal new insights into how red light-regulated histidine kinases function

Scientists have revealed new information on how red light-regulated histidine kinases function.

14 Jun 2024

The hidden genetic switches influencing human height and bone health

In mammals, only 3% of the genome consists of coding genes which, when transcribed into proteins, ensure the biological functions of the organism and the in-utero development of future individuals. But genes do not function alone.

14 Jun 2024

Long-read RNA sequencing reveals novel insights into alternative splicing and disease genetics

Tokyo Medical and Dental University (TMDU) researchers harness long-read RNA sequencing to decode genetic intricacies and disease links.

12 Jun 2024

HiDEF-seq technique reveals the origins of DNA mutations in single strands

Mutations are changes in the molecular "letters" that make up the DNA code, the blueprint for all living cells. Some of these changes can have little effect, but others can lead to diseases, including cancer.

12 Jun 2024

Study identifies genetic predictors of X chromosome loss in aging women

Researchers have identified inherited genetic variants that may predict the loss of one copy of a woman's two X chromosomes as she ages, a phenomenon known as mosaic loss of chromosome X, or mLOX.

12 Jun 2024

Study reveals exploitation mechanism of virus-related nanoparticles for bacterial proliferation

Viruses are ubiquitous in the environment, and organisms have developed various mechanisms to counter their threat.

11 Jun 2024

Mount Sinai researchers use AI to identify 17 key genes in heart disease

Using an advanced artificial intelligence tool, researchers at the Icahn School of Medicine at Mount Sinai have identified rare coding variants in 17 genes that shed light on the molecular basis of coronary artery disease (CAD), the leading cause of morbidity and mortality worldwide.

11 Jun 2024

Genome sequencing identifies genetic disorders missed by exome analysis

Genetic mutations in human DNA can prevent proteins that perform important functions in the body from being formed correctly.

10 Jun 2024

CSHL team identifies crucial protein interactions in RNA splicing process

Bodybuilders and cellular mechanisms agree generating protein is a heavy lift. To complete the task, cells rely on complexes called spliceosomes.

10 Jun 2024

Efficient whole-gene insertions can be achieved with improved gene-editing technology

Scientists at the Broad Institute of MIT and Harvard have improved a gene-editing technology that is now capable of inserting or substituting entire genes in the genome in human cells efficiently enough to be potentially useful for therapeutic applications.

10 Jun 2024

Inherited gene sequences predict breast cancer type and severity, study reveals

A Stanford Medicine study of thousands of breast cancers has found that the gene sequences we inherit at conception are powerful predictors of the breast cancer type we might develop decades later and how deadly it might be.

7 Jun 2024

Study sheds light on the rate and nature of mutations in mitochondrial DNA

A new study from deCODE genetics uses pedigrees and sequence data from 64,806 Icelanders to shed light on the rate and nature of mutations in mitochondrial DNA (mtDNA) and the peculiar dynamics of its maternal transmission.

7 Jun 2024

Gene therapy trial: restored hearing in children with hereditary deafness

The safety and effectiveness of binaural adeno-associated virus 1 (AAV1)-human otoferlin (hOTOF) therapy in five children with autosomal recessive deafness 9 (DFNB9).

7 Jun 2024

Genetic discovery reveals key to inflammatory diseases

Researchers discovered that a specific haplotype on chromosome 21 is linked to five inflammatory diseases, offering insights into potential new treatments.

7 Jun 2024

Developing pre-symptomatic diagnostic tools for Alzheimer's disease using long-read RNA sequencing

Researchers at the University of Kentucky Sanders-Brown Center on Aging are working to develop a pre-symptomatic disease diagnostic tool for Alzheimer's disease.

6 Jun 2024

Discovery of Ptr gene revolutionizes understanding of plant immunity against fungal infections

Blast disease, caused by the fungus Magnaporthe oryzae, is a veritable plague in agriculture. In addition to devastating rice crops – the staple food of 60% of the world's population – it began attacking wheat in the 1980s, across a growing area of distribution and with a serious risk of emergence in Europe.

5 Jun 2024

New method developed for target DNA sequence amplification, testing and analysis

A team of researchers from the Case Western Reserve University School of Medicine has developed a new method for target DNA sequence amplification, testing and analysis.

5 Jun 2024

Novel technique maps enhancer-gene interactions in single cells

The human genome contains about 23,000 genes, but only a fraction of those genes are turned on inside a cell at any given time.

5 Jun 2024

Study uncovers genetic clues to the cause of restless leg syndrome

Scientists have discovered genetic clues to the cause of restless leg syndrome, a condition common among older adults.

5 Jun 2024

Study reveals new insight into how human telomeres function at the molecular level

The length of telomeres that protect the ends of our chromosomes should be tightly regulated. Those that are too long predispose to cancer, and those that are too short lose their protective ability, resulting in telomere disorders with serious health consequences.

4 Jun 2024

Genomics

Scientists reveal new insights into how red light-regulated histidine kinases function

The hidden genetic switches influencing human height and bone health

Long-read RNA sequencing reveals novel insights into alternative splicing and disease genetics

HiDEF-seq technique reveals the origins of DNA mutations in single strands

Study identifies genetic predictors of X chromosome loss in aging women

Study reveals exploitation mechanism of virus-related nanoparticles for bacterial proliferation

Mount Sinai researchers use AI to identify 17 key genes in heart disease

Genome sequencing identifies genetic disorders missed by exome analysis

CSHL team identifies crucial protein interactions in RNA splicing process

Efficient whole-gene insertions can be achieved with improved gene-editing technology

Inherited gene sequences predict breast cancer type and severity, study reveals

Study sheds light on the rate and nature of mutations in mitochondrial DNA

Gene therapy trial: restored hearing in children with hereditary deafness

Genetic discovery reveals key to inflammatory diseases

Developing pre-symptomatic diagnostic tools for Alzheimer's disease using long-read RNA sequencing

Discovery of Ptr gene revolutionizes understanding of plant immunity against fungal infections

New method developed for target DNA sequence amplification, testing and analysis

Novel technique maps enhancer-gene interactions in single cells

Study uncovers genetic clues to the cause of restless leg syndrome

Study reveals new insight into how human telomeres function at the molecular level

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