The most recent software, Paraphase, produces "mini haplotypes" rather than counting copy number variations to identify variants linked to rare diseases.
Funded by the Lustgarten Foundation, the researchers plan to analyze 400-plus pancreatic cancer samples to study the genetic changes linked to the disease.
New, more accurate methods are posing problems for the NGS ecosystem as researchers rethink the concept of accuracy altogether.
Chinese University of Hong Kong, Take2 Sue Pacific Biosciences Over DNA Methylation Detection Tech
The Hong Kong-based plaintiffs alleged that PacBio has copied their method of calling methylated bases using quirks of the PacBio sequencing method.
By augmenting PacBio HiFi sequencing with Oxford Nanopore ultralong reads, Verkko produced complete assemblies of 20 of the 46 human chromosomes.