Genome

An international team of scientists has published the first complete, gap-free sequence of the human genome. The new reference genome adds hundreds of millions of base pairs to earlier drafts, filling in crucial gaps to improve studies of disease.

Genome sequencing can determine whether a patient’s illness is genetic, but results usually take weeks. A new ultra-rapid technique can sequence a person’s genome and diagnose genetic diseases in just a few hours, earning it a Guinness World Record.

Galapagos giant tortoises are some of the longest-living animals on Earth, but how do they pull off the feat? A new study has examined the genome of the species and found duplicate genes that may protect them from aging-related diseases like cancer.

Scientists in Australia have made intriguing discoveries in the genomes of a range of animals. What was initially mistaken for dust on the slides turned out to be “microchromosomes” from an ancient ancestor, present in birds, reptiles and mammals.

Sugarcane is a key food crop, but its large environmental impact leaves plenty of room for improvement. Unfortunately it’s tricky and time-consuming to breed new varieties, but now researchers have used CRISPR gene-editing to do so more easily.

New clinical data shows that CRISPR gene editing can be done safely and effectively inside the body. CRISPR was injected into the bloodstream of patients with a genetic disease, with better outcomes than current treatments and no side effects.

A study is presenting evidence a major coronavirus outbreak struck humans in East Asia around 20,000 years ago. The scientists found genomic marks indicating local populations faced a long viral epidemic that only dissipated a few thousand years ago.

Two new studies have shed light on just how often our ancestors got frisky with Neanderthals. Scientists analyzed the genomes of 45,000-year-old human remains found in Czechia and Bulgaria, including the oldest known genome of a modern human.

Scientists have sequenced the genome of a “living fossil” from the time our ancestors first crawled out of the oceans. The Australian lungfish genome is the largest of any animal sequenced so far, revealing it to be our closest living fish relative.

A new piece of open source software can radically speed up the process of DNA sequencing, according to Johns Hopkins University researchers. Using a portable sequencer, the UNCALLED software can cut a 15-day operation down to three days, or even one.

Researchers have resurrected woolly mammoth genes, from one of the last known mammoth populations, in the lab. These mammoths were believed to have suffered genetic defects, and in tests the team found that the genes did not function normally.

The Pan-Cancer Project is an international collaboration dedicated to analyzing thousands of whole cancer genomes. The results have been published, revealing new details about cancer’s causes, development, classification, diagnosis and treatment.