Tech News
← Home  ·  All topics

Genomics

12 GoKawiil briefs on this topic

Study maps how the developing human brain removes genetically abnormal neurons at birth

Researchers analyzed single-nucleus whole genomes from human prenatal and postnatal cortical tissue obtained via the NIH NeuroBioBank, using a tagmentation-based whole-genome amplification technique to profile individual neurons. The work, titled 'Perinatal elimination of genetically aberrant human cortical neurons,' examines how cells carrying genetic abnormalities are cleared from the cortex around the time of birth.

Study links tandem repeat DNA variation to immune cell gene expression

A new genomics study reports that variation in short tandem repeats—stretches of repeated DNA sequence—is associated with gene expression differences across distinct immune cell types. The findings, drawn from large-scale single-cell sequencing data, add tandem repeats to the known catalog of genetic variants that influence how genes are turned on or off in specific cell populations.

Study finds genome accessibility data exposes disease risk missed by gene expression

Researchers report that measuring chromatin accessibility—which regions of DNA are open and available for activity—can reveal disease-associated genetic signals that standard gene expression analysis fails to capture. The findings come from a study published via Nature's research platform, though specific methods and disease models were not detailed in the available text.

Origin Genomics Founder Cathy Tie Calls Embryo Gene-Editing a 'Moral Imperative'

Cathy Tie, 30-year-old founder of Origin Genomics—a company launched in March to bring gene-edited embryos to IVF clinics—published a commentary in Trends in Genetics urging public funding and new regulatory pathways for germ-line editing research and eventual clinical use. The push follows the 2018 case of He Jiankui, who was imprisoned after creating the first gene-edited babies, and comes despite bans on embryo editing for pregnancy in dozens of countries.

Researchers release population-scale immune multiome atlas linking regulatory variants to disease

A research consortium has published a large-scale multiome dataset profiling gene expression and chromatin accessibility across immune cell types in many individuals, generating single-cell eQTLs and chromatin accessibility QTLs. The dataset is designed to help pinpoint which genetic variants associated with disease actually alter gene regulation in specific immune cell states, building on prior efforts like GTEx, ENCODE and FinnGen.

Researchers publish assembled genomes of 103 bat species spanning all 21 families

A study published in Nature by Morales and colleagues presents assembled genomes for 103 bat species, including 42 newly generated for the project, covering representatives of every known bat taxonomic family. The dataset gives scientists a broad genomic view of bat diversity and evolutionary history across the order Chiroptera.

Study maps gene regulatory changes behind human skeletal evolution

A Nature paper by Yan et al. used genomics tools to catalog genetic variants, genes and pathways that distinguish the human skeleton from those of chimpanzees, bonobos and gorillas. The work builds on the long-standing idea that human-ape differences arise more from regulatory changes in gene expression than from changes in protein-coding sequences themselves.

Study catalogues human-specific gene-regulatory changes shaping the skeleton

Researchers compared genomes from over 100 non-human great apes—including bonobos, chimpanzees, gorillas and orangutans—against thousands of human genomes to identify DNA substitutions unique and fixed in humans. They applied strict filtering criteria involving sequencing depth, genotype quality and allelic balance, then cross-checked results against archaic human genomes from Neanderthals and Denisovans, producing a curated set of human-specific variants for further functional testing via a massively parallel reporter assay (MPRA).

Rockefeller researcher Junyue Cao maps aging as a programmed sequence, not random decay

Cell biologist Junyue Cao of Rockefeller University argues that aging follows a structured, stepwise progression rather than being simple molecular wear and tear. Using single-cell genomic tools to track aging in mice across the body, his lab identified distinct stages marked by shifts in molecular signals and cell populations, resembling phases of embryonic development. Cao suggests this programmed decline likely starts before age 30 in humans.

Scientists grow rare Asgard archaea in lab, illuminating eukaryote origins

Researchers have managed to culture Asgard archaea, elusive microbes first identified from deep-sea sediment DNA in 2015, allowing direct study beyond genetic sequencing alone. One such culture, dubbed 'Skadi,' was recently transported across the US by a scientist determined to keep it alive and stable for continued research.

Google's AlphaGenome Atlas maps effects of every possible single-base DNA mutation

Google has released AlphaGenome Atlas, a tool that predicts the functional impact of swapping in any of the three alternative bases at every position across the roughly 3-billion-base human genome, amounting to 9 billion base substitutions analyzed. The system focuses heavily on non-coding DNA, which makes up over 97% of the genome and includes regulatory elements that control gene activity alongside leftover viral sequences with no clear function.

Google DeepMind releases AlphaGenome Atlas covering 9 billion DNA variants

DeepMind has published the AlphaGenome Atlas, a free online database containing precomputed predictions for every possible single-letter change across the human reference genome—about 9 billion variants. Built on its AlphaGenome model introduced earlier in 2025 and detailed in a January Nature paper, the Atlas lets scientists browse results through a web interface instead of writing code or running the model themselves.