PgmNr 2221/T: Structural variant in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder.
- Evaluation of HG002 v4 draft benchmark against GATK calls on PacBio HiFi reads
- PgmNr 1540/T: Using long and linked reads to generate a new Genome in a Bottle small variant benchmark.
- PgmNr 1866/W: Detection and phasing of small variants in Genome in a Bottle samples with highly accurate long reads
- Comprehensive variant detection in a human genome with highly accurate long reads
- Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome