Innovative platform helps explore genetic links to 99 diseases

A new study introduces the Proteome-Wide Association Study Hub, an innovative and powerful tool designed to explore gene-disease connections ...

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Overview · Latest Gene News and Research · Innovative platform helps explore genetic links to 99 diseases · Rare variant analysis reveals genetic spectrum of ...

Hebrew University of Jerusalem Nov 18 2024 A new study introduces the Proteome-Wide Association Study Hub, an innovative and powerful tool ...

The third generation sequencing: the advanced approach to genetic ...

In summary, the TGS has been enhancing the diagnostic accuracy of genetic diseases in molecular level as well as paving a new way for basic researches and ...

DECIPHER: Fuelling Rare Disease Research

More than 15 years ago, a hospital doctor realised that bringing people's genetic data together could provide answers for families affected ...

PWAS platform and results for UKB ICD-10 I10. A A schematic ...

The PWAS Hub offers a user-friendly interface for an in-depth exploration of gene–disease associations from the UK Biobank (UKB). Results from PWAS cover 99 ...

Next-Generation Sequencing Technology: Current Trends and ...

NGS can sequence millions of DNA fragments at once, providing detailed information about the structure of genomes, genetic variations, gene activity, and ...

New online resource helps connect rare genetic variants to human ...

New online resource helps connect rare genetic variants to human health and disease ... Genebass summarizes a genetic analysis of nearly 400,000 ...

Innovations in Medicine: Exploring ChatGPT's Impact on Rare ...

Breakthrough AI Integration in Rare Disorder Management: This review comprehensively explores how AI, particularly ChatGPT, is transforming the management of ...

The Best DNA Test for Health in 2024 - Innerbody

MyToolbox Genomics offers DNA and epigenetics test kits to help you learn about what's set in stone with your genes and what you can potentially ...

DisGeNET: a discovery platform for the dynamical exploration of ...

Abstract. DisGeNET is a comprehensive discovery platform designed to address a variety of questions concerning the genetic underpinning of human diseases.

treatment of genetic diseases through nucleic acid-based drugs

Vyjuvek™ (beremagene geperpavec) is the first FDA approved HSV1-based gene therapy. The advantages and disadvantages of each of the mainly used ...

Revolutionizing healthcare: the role of artificial intelligence in clinical ...

AI can be used to diagnose diseases, develop personalized treatment plans, and assist clinicians with decision-making. Rather than simply ...

25 greatest impacts in 25 years: Illumina and the evolution of ...

For 10 years, the Illumina iHope program has facilitated pro bono genome testing for more than 1700 children with suspected rare genetic disease ...

Article A unifying statistical framework to discover disease genes ...

Moreover, it establishes human genetics support for many genes previously implicated only by clinical or preclinical evidence, and it uncovers a ...

Gene Therapy: Genes As Medicine | Pfizer

Pfizer's Rare Disease team is focusing on highly specialized, potential gene therapy treatments, and clinical trials are underway to explore the potential of ...

NIH funds new effort to discover genetic causes of single-gene ...

The consortium's goal is to significantly increase the number of Mendelian disorders for which the genetic cause is known. To achieve this, the ...

Host genetics and infectious disease: new tools, insights ... - Nature

Understanding how human genetics influence infectious disease susceptibility offers the opportunity for new insights into pathogenesis, ...

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An innovative portal for rare genetic diseases research

Another platform that aggregates genotype-to-phenotype information regarding rare diseases, pointing to key elements for both the education and the biomedical ...