POSTS TAGGED AS genomics

Novel Disease Gene Discovery

AI-MARRVEL — A knowledge-driven AI system for diagnosing Mendelian Disorders
“AI-MARRVEL (AIM), uses a random-forest machine-learning classifier trained on over 3.5 [MORE]

Britain’s Pharma Proteomics Project

Realizing the potential of population-scale proteogenomics.
“In late 2023, the UKB-PPP (UK Biobank-Pharma Proteomics Project) consortium reported the first outcomes from [MORE]

AI and Research and Curation

Genomenon combines AI with scientist curation to offer gene-disease insights
“U.S. genomic intelligence company Genomenon [Ann Arbor, MI] has combined computer-based [MORE]

From Sanger to NGS-History of Genetic Sequencing

DNA sequencing methods- from Sanger to NGS
“DNA sequencing has come a long way since its inception in the 1970s. A [MORE]

World’s Largest Genome Database

“Ground-Breaking” release of world’s largest whole genome resource – UK Biobank
“Entire genome sequences for nearly half a million people have [MORE]

Humanized COVID-19 Mouse

Mouse genome rewriting and tailoring of three important disease loci
“Here we [NYU Grossman School of Medicine] describe ‘mammalian switching antibiotic [MORE]

“All of Us” Program Releases 250k Genomes

“All of Us” Research Program
“The National Institutes of Health’s (NIH) All of Us Research Program announced that 250,000 whole genome [MORE]

AI, ChatGTP, in Medicine: Predictions

Peter Shen, head of digital and automation business at Siemens, discusses the need for broader adoption of artificial intelligence and [MORE]

“Verkko” Automated Genome Assembly

Verkko  assembles complete genome sequences on-demand
“National Institutes of Health researchers have developed and released an innovative software tool to assemble [MORE]

2022’s Medical Milestones

Global effort realizes first 100% complete sequence of human genome
“The Human Genome Project has been running for decades, famously publishing [MORE]

Illumina’s High throughput Sequencers @$200/Sequence

Illumina pitches $200 genomes with new line of DNA sequencers
“The new sequencers, which include the NovaSeq X and NovaSeq X [MORE]

Microproteins in the Genome’s “Dark Matter”

Yale’s cellular spray paint highlights “dark matter” of the genome
“While science continues to identify and unravel the role of the [MORE]

Metabolomics in Personalized Medicine

Metabolomics
“You have tens of thousands of genes, of which tens of thousands will be expressed – and you also have [MORE]

Genome Editing with IscB-ωRNA

Genome Editing with IscB-ωRNA
“In new research, Cornell scientists provide an explanation for how this problem [i.e. the large size of [MORE]