Pacific Biosciences of California Inc.’s technology could rapidly increase the number of rare diseases—and their causes—identified by sequencing. Researchers at Children’s Mercy Research Institute in Kansas City found four times as many rare coding structural variants using Pacbio’s highly accurate long reads (Hifi) sequencing than standard sequencing detected. Results of the study were published in Genetics in Medicine.

It is acknowledged that the huge bias toward individuals of European ancestry means studies of the contribution of genetics to disease may not translate well to other ethnicities. That point is underlined in the first large-scale investigation of the population structure and demographic history of British Pakistanis, which shows an increased number and length of regions of homozygosity inherited from a common ancestor, and greatly elevated identity by descent, compared to the population at large.

It is acknowledged that the huge bias toward individuals of European ancestry means studies of the contribution of genetics to disease may not translate well to other ethnicities. That point is underlined in the first large-scale investigation of the population structure and demographic history of British Pakistanis, which shows an increased number and length of regions of homozygosity inherited from a common ancestor, and greatly elevated identity by descent, compared to the population at large.

The most comprehensive international collaborative analysis to date of the impact of variants on gene expression has revealed thousands of previously unknown regulatory genomic regions controlling disease-linked genes, representing a major advance in genomics-driven precision medicine.

DUBLIN – Ochre Bio Ltd. has raised $9.6 million in seed financing to drug the liver like never before, by combining genetics, single-cell genomics, spatial sequencing, imaging and machine learning to build a high-resolution, in silico model of the organ, which can provide new insights into disease biology and open up new drug targets.

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.

Perkinelmer Inc. is looking to bolster its life sciences offerings with the purchase of cell engineering company Horizon Discovery Group plc for $383 million. The all-cash acquisition will add gene-editing and gene-modulation tools to Perkinelmer’s existing portfolio of discovery and applied genomics solutions. Headquartered in Cambridge, U.K., Horizon provides CRISPR and RNA interference (RNAi) reagents, cell models, cell engineering and based editing products to aid in drug discovery and development.

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 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.