Genome Medicine
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Equitable Health Intelligence: An Open Benchmark of Multi-Population Machine Learning for Omics-Based Cancer Prognosis
Purpose: Machine learning (ML) models for omics-based cancer prognosis are often trained on data from predominantly European-ancestry populations, producing biased predictions for other populations and undermining equitable genomic medicine. Existing fairness benchmarks mainly focus on outcome parity rather than predictive performance parity across populations. Public benchmark resources are needed for systematically detecting and mitigating such performance disparities in multi-population...
D&D-seq maps DNA-protein interactions in single cells with multi-omics compatibility
D&D-seq maps DNA-protein interactions in single cells with multi-omics compatibility Sadie Harley Scientific Editor Robert Egan Associate Editor A new technology allows scientists to map, in single cells, the DNA binding sites of transcription factors and other regulatory proteins that control gene activity, according to a study led by investigators at Weill Cornell Medicine and the New York Genome Center. With key advantages over methods currently in use, the technology is expected to be a...
Genetic Scores are Booming. But Will Anti-Discrimination Laws Cover Your DNA?
A scanning electron micrograph of human chromosomes. Polygenic risk scoring, increasingly popular in personal medicine, uses an individual’s genome to estimate that person’s likelihood of developing a specific disease.
Genetic Scores are Booming. But Will Anti-Discrimination Laws Cover Your DNA?
A scanning electron micrograph of human chromosomes. Polygenic risk scoring, increasingly popular in personal medicine, uses an individual’s genome to estimate that person’s likelihood of developing a specific disease.
Overlooked DNA structures help organize the genome
Overlooked DNA structures help organize the genome Lisa Lock Scientific Editor Robert Egan Associate Editor Northwestern Medicine scientists have discovered that little-studied DNA structures play a central role in organizing the human genome and controlling gene activity, according to a new study published in the Proceedings of the National Academy of Sciences. The study revealed that G-quadruplexes (G4s)—four-stranded DNA structures—directly interact with a key genome-organizing protein...
Scientists discover why ozempic may not work for some people
Scientists discover why ozempic may not work for some people A hidden genetic quirk may be making some people surprisingly resistant to the benefits of blockbuster GLP-1 diabetes drugs. - Date: - June 5, 2026 - Source: - Stanford Medicine - Summary: - Scientists have identified genetic variants that may make some people less responsive to GLP-1 drugs used to treat Type 2 diabetes.
Thanks to natural selection, Indigenous Andeans may digest potatoes better than anyone else in the world, study finds
Thanks to natural selection, Indigenous Andeans may digest potatoes better than anyone else in the world, study finds After domesticating potatoes 10,000 years ago, the ancient people of the Andes evolved to have more copies of a key gene involved in digesting starch. Indigenous Andeans in Peru may be able to digest potatoes and other starches more easily than anyone in the world, a new study finds. Scientists discovered that Indigenous Andeans have more copies of the gene for saliva-based...
'I just want my life back after doctors found problem deep inside my brain'
'I just want my life back after doctors found problem deep inside my brain' Annalise Donelon thought her headaches were down to exam stress A university student who dismissed her persistent headaches as exam stress received the devastating news that she had a cancerous brain tumour. Annalise Donelon, 20, known as Annie, visited her GP on multiple occasions, with doctors reportedly attributing her symptoms to a B12 deficiency. However, injections failed to bring any relief, and the chemical...
Genetically modified hookworms produce and deliver therapeutics
Genetically modified hookworms produce and deliver therapeutics Stephanie Baum Scientific Editor Robert Egan Associate Editor Hookworms, intestinal parasites that infect hundreds of millions of people in under-resourced tropical regions around the globe, have evolved to survive inside the human gut for years, secreting molecules that enable coexistence with their hosts. Now, researchers at Washington University School of Medicine in St. Louis have harnessed that biological mechanism for...
Why does the Y chromosome retain UTY?
Why does the Y chromosome retain UTY? Sadie Harley Scientific Editor Andrew Zinin Lead Editor A study, published in the journal Development, is the first to precisely map endogenous UTY occupancy across the human genome and demonstrate that UTY remains functionally involved in transcriptional regulation during early human development.