The Platinum Pedigree Consortium (PCC) is a collaborative project aimed at creating a comprehensive reference for human genetic variation. It utilizes a four-generation, 28-member family (CEPH-1463). The PCC incorporates whole genome sequencing employing five technologies across four generations: four grandparents from the 1st generation, two parents from the 2nd generation, five children from the 3rd generation (representing two branches), and nine individuals from the 4th generation, along with their two additional parents. Phased assemblies and characterization of both inherited and de-novo variation were achieved using four different long-read sequencing technologies. Further details about the dataset can be found in the associated GitHub repository. Small variants were called using DeepVariant and merged with GLnexus, while structural variants were called using a combination of read-based and assembly-based methods. The specific callers used for read-based calling were pbsv, sniffles, and sawfish, as well as Phased Assembly Variant Caller (PAV) and PanGenome Graph Builder (PGGB) for assembly-based calling. The resulting structural variant calls were merged using a custom...
This collection is openly accessible.
Platinum Pedigree Consortium is published on HiFi Solves.