Personalis has launched services for genomic sequencing and interpretation, including its ACE Exome and ACE Genome sequencing services, which supplement standard exome and whole-genome sequencing with additional targeted sequencing to improve accuracy and coverage of medically interpretable regions.
The company also offers standard exome and whole-genome sequencing using Illumina's TruSeq enrichment chemistry and sequencing on the HiSeq 2000 or HiSeq 2500.
Real Time Genomics has launched a genome analytics platform for use in the study of early childhood disease.
The company said that it used the Illumina Platinum Genomes dataset, a three-generation pedigree of 17 individuals sequenced at high coverage, "to demonstrate and validate the platform's ability to accurately identify disease-causing variants leveraging data from multiple genomes in a family."
RTG said the platform is compatible with data from Illumina, Life Technologies' Ion Torrent, Roche 454, and Pacific Biosciences sequencers.
The platform uses a Bayesian algorithmic framework to analyze genomic data from related individuals. It produces a report that includes single nucleotide and multiple nucleotide variants, small insertions and deletions, and structural variants.