The human genome, the sequence that represents the DNA of our species, was built with a single individual as a model. This all-in-one standard didn’t include the gene variations that make us different or explain why some people develop certain diseases. Four simultaneous studies from the Human Pangenome Reference Consortium have published a sequence based on 47 individuals, beginning to capture the genetic diversity that defines humans.
Data on the prevalence of diabetes in the U.S. show that non-Hispanic white people are least likely to suffer from the disease. Yet to date most genetic studies of the glycemic traits that are used to diagnose and monitor type 2 diabetes and cardiometabolic health have focused on individuals of European ancestry.
Researchers at Yale University have described what they have called a “data sanitization tool,” enabling them to strip personal identifiers out of functional genomics data while preserving their usefulness for research.
The Genotype-Tissue Expression (GTEx) project, a multiyear, multi-institutional attempt to catalog how expression quantitative trait loci (eQTL) and splicing quantitative trait loci (sQTL) affect protein levels, reported data from its final phase in 15 papers in the Sept, 10, 2020, online issues of the Science and Cell family of journals, as well as in Genome Biology.
Researchers from the Encyclopedia of DNA Elements (ENCODE) consortium reported data from the third phase of the project. Phase III data, which were published in more than a dozen papers in Nature and its sister journals on July 29, 2020, consisted of 6,000 experiments performed on around 1,300 samples.
LONDON – A vast new body of genomics research has identified thousands of rare genetic variants that are predicted to cause loss of function in protein coding genes, providing novel in vivo models of human gene inactivation.
LONDON – The U.K. is launching a £28 million (US$34.5 million) project to sequence the whole genome of every COVID-19 patient in the country treated in intensive care, with the aim of uncovering host genetic factors that lead some people to be more severely affected by the infection. The study will involve up to 20,000 people currently or previously treated in one of 170 intensive care units (ICUs), whose genomes will be compared to 15,000 people with a confirmed infection who had mild or moderate symptoms.
LONDON – The extent to which existing DNA databases fail to reflect human genetic diversity is laid bare in the most geographically comprehensive sequencing initiative to date. The study applied the latest sequencing techniques to 929 genomes from 54 diverse populations around the world.
Beyond every binary is a more complex reality. And so it is with driver and passenger mutations. The separation of tumor mutations into drivers and passengers underpins much progress in the development of targeted therapies. By looking at passenger mutations more carefully, though, researchers at Yale University have shown that passenger mutations, too, played a role in how tumors progressed.
LONDON – The genomes of 38 different tumor types and the 47 million mutations that fostered their growth are revealed in unprecedented detail in 23 studies published in Nature and other journals on Feb. 6, 2020.