The company showed that its chip can detect SNPs in models of sickle-cell disease and amyotrophic lateral sclerosis, without the need for DNA amplification.
The researchers found that sequencing at a depth of 4x or higher captured variants of all frequencies more accurately than all commonly used GWAS arrays.
Based on 6,447 exome sequences, the researchers estimated that every person is a carrier of at least two pathogenic variants in autosomal-recessive genes.
The study uncovered virus-specific as well as shared host factors, including a lysosomal protein that SARS-CoV-2 requires to infect primary lung cells.
As the life science industry left 2020 behind, it joined a new trend: going public through a mechanism that combines an IPO and merger in one transaction.
The method could be used to determine the function of thousands of mutations to see whether they cause disease, or confer drug sensitivity or resistance.
Reuters reports that France is to recommend that people under 55 who received one dose of AstraZeneca's SARS-CoV-2 vaccine receive a different vaccine for their second dose.
