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RNA Variant Imaging is attracting attention because it addresses a persistent blind spot in cancer diagnostics: many clinically relevant RNA isoforms, splice events, and fusion tra...
Variant effect prediction has entered a new phase, but one of biology’s largest blind spots remains stubbornly difficult to resolve. Computational tools have become increasingly ef...
by Gamze Maden, Mehmet Baysan, Nizamettin Aydın Structural Variants (SVs) constitute a significant yet complicated class of genomic changes. Due to their imprecise breakpoints, v...
by Rafael Riudavets Puig, Denise G. O’Mahony, Ina Skaara Brorson, Ksenia Sokolova, Vessela N. Kristensen, Anthony Mathelier Transcription is regulated through the sequence-specifi...
Electronic health records (EHRs) are central to patient-centered care. However, many current EHR systems do not represent, exchange, or reuse genomic findings in structured, intero...
DeepMind's AlphaGenome Atlas maps every single-letter change in the human genome with 1 impact score per variant. The post Google DeepMind Releases AlphaGenome Atlas With Precomput...
We’re introducing AlphaGenome Atlas, a database predicting the effects of every possible single nucleotide variant in the human genome.
by Rose A. Gogal, Genevieve M. Cox, Diana L. Kolbe, Amanda M. Odell, Chloe E. Ovel, Katherine I. McCormick, Brian Hong, Hela Azaiez, Thomas L. Casavant, Richard J. H. Smith, Terry...
Illumina introduces SpliceAI2, an AI model that improves disease-relevant splice variant prediction, using genomic and RNA sequencing data to demonstrate greater accuracy in identi...
Most one-base changes to the human genome do nothing, but a few are significant.
DeepMind’s latest artificial intelligence system, AlphaGenome, marks a significant leap in decoding the complexities of the human genome. With over 3 billion base pairs to analyze,...
Hundreds of newly identified microexons seem to matter for autism and other neurological conditions, according to a Nature study. A machine learning model of their regulatory code...
AI-assisted genomic analysis was combined with human genetics and fruit fly experiments to link reduced BRSK1 function to a variable neurodevelopmental disorder. The post AI Tool...
RNA sequencing and machine learning revealed more than 1,500 previously unidentified microexons and genetic variants affecting their splicing, providing new insights into autism-as...
Study results suggest how a particular genetic variant can speed onset of Huntington disease motor symptoms by up to 12.5 years and accelerate clinical measures of disease progress...
Researchers used Raman spectroscopy to distinguish 20 SARS-CoV-2 variants through RNA structural fingerprints, demonstrating a potential faster alternative to RNA sequencing...
by Marika D’Avanzo, Aung Pone Myint, Giacomo Cacciapaglia, Stefan Hohenegger, Francesco Conventi, Marta Nunes The COVID-19 pandemic highlighted the critical need for robust method...
by Nathan R. Campbell, Amanda R. Campbell, Shannon K. Blair, Amanda J. Finger GT-seq (Genotyping-in-Thousands by Sequencing) is widely used for high-throughput amplicon genotyping...
by Prateek Anand, Anji Liu, Meihua Dang, Boyang Fu, Xinzhu Wei, Guy Van den Broeck, Sriram Sankararaman Generative models play an important role in population genetics, being used...
The AACR Project GENIE Data Model, recently released by the AACR GENIE consortium, is an open-access tool designed to help simplify data harmonization in precision oncology. Learn...
The atlas could help scientists decipher how genetic variation shapes health and disease. The post Google’s Genome Atlas Predicts the Effect of Every Possible DNA Mutation appeared...
Multiomics analysis combines data from two or more omics layers—such as genomics, transcriptomics, proteomics, and epigenomics. However, published criticisms of multiomics approach...
Published: September 2026 In this report, we showcase how AMRC charities are advancing genomics and supporting its use to benefit patients - from research and infrastructure to po...
Short-read RNA sequencing reporting the modifications that alter protein output is starting to make epitranscriptomics indispensable for patient selection in precision medicines. T...
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