Genomics

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Rare variants in the YKT6 gene cause new neurological disorder, study finds

A recent collaborative study has discovered rare variants in the YKT6 gene as the cause of a new neurological disorder characterized by developmental delays along with severe progressive liver disease and a potential risk for liver cancer.

1 Apr 2024

UVA researchers discover Y chromosome gene linked to heart failure in men

University of Virginia School of Medicine researchers have discovered a gene on the Y chromosome that contributes to the greater incidence of heart failure in men.

1 Apr 2024

Understanding the genetics behind thyroid cancer to prevent unnecessary invasive treatments

Researchers at the University of Colorado School of Medicine are hopeful new research could prevent up to 130,000 unneeded fine-needle aspiration (FNA) biopsies of thyroid nodules and subsequent surgeries each year in the United States by better understanding the genetic risk associated with thyroid cancer.

1 Apr 2024

Researchers decode the evolutionary pathway of regulatory proteins

New research from the University of Wisconsin–Madison decodes the evolutionary pathway of regulatory proteins, the molecules that help control gene expression.

29 Mar 2024

Uncovering gender-specific genetic alterations in cancer

Recent research spearheaded by Chunmei Cui at the State Key Laboratory of Vascular Homeostasis and Remodeling, Peking University, China, casts a new light on the nuanced interplay between gender and cancer, uncovering significant sex-specific disparities in copy number alterations (CNA) across various cancer types.

29 Mar 2024

Research reveals genetic factors in cerebral palsy development

A Canadian-led study has identified genes which may be partially responsible for the development of cerebral palsy.

29 Mar 2024

Unraveling gene regulation's role in pulmonary fibrosis

Regulators of gene expression are thought to play an outsized role in disorders from cancers to heart disease. But how exactly do variations in gene regulation translate into a disease's biology?

28 Mar 2024

Research offers first insights into the mechanism behind synaptic development

The first analysis of how synaptic proteins change during early development reveals differences between mice and marmosets but also what's different in individuals with autism spectrum disorders.

28 Mar 2024

Genetic and lifestyle factors linked to brain network aging, study reveals

Research highlights the impact of genetic and lifestyle factors on a brain network particularly sensitive to aging, schizophrenia, and Alzheimer's disease, using data from nearly 40,000 UK Biobank participants to investigate modifiable risk factors and genetic associations.

28 Mar 2024

Genetic test streamlines diagnosis of rare developmental disorders

A single genetic test could potentially replace the current two-step approach to diagnosing rare developmental disorders in children. This shift could enable earlier diagnoses for families and save the NHS vital resources.

28 Mar 2024

Study sheds light on the interplay of genes in smoking addiction

Take a puff of nicotine for the first time, and your DNA plays an important role, alongside social and environmental factors, in shaping what happens next.

26 Mar 2024

New genetic system analyzes the underlying mechanisms of CRISPR-based DNA repair outcomes

Since its breakthrough development more than a decade ago, CRISPR has revolutionized DNA editing across a broad range of fields.

26 Mar 2024

GPT-4 shows expert-level accuracy in annotating cell types

GPT-4 can accurately interpret types of cells important for the analysis of single-cell RNA sequencing -- a sequencing process fundamental to interpreting cell types – with high consistency to that of time-consuming manual annotation by human experts of gene information, according to a study at Columbia University Mailman School of Public Health.

26 Mar 2024