Table 3 Consortia using long-read sequencing
From: Applications of long-read sequencing to Mendelian genetics
Project / consortium | Description | Estimated samples involved for LRS | Sequencing technology employed |
|---|---|---|---|
HGSVC | The Human Genome Structural Variation Consortium aims to create a high-quality map of human structural variation analyzing the genomes of individuals from different human populations and develop new discovery/analysis methods. | 69+ | PacBio, ONT |
HPRC | The Human Pangenome Reference Consortium aims to develop a novel genome reference able to include all human genome variations and represent the full diversity of the human populations. | 350+ | PacBio, ONT |
GREGoR | The GREGoR Consortium aims to substantially increase the number of Mendelian disorders with a known genetic cause focusing on the study of clinical cases. | 500+ | PacBio, ONT |
ONT 1000 Genomes Project | The ONT 1000 Genomes Project aims to create a comprehensive genomic dataset of a large, diverse group of persons and provide an extensive catalog of structural variations. | 500+ | ONT |
All of Us | The All of Us project aims to create a collection of genomic data from a large number of individuals in the United States. | 12,000+ | PacBio, ONT |