At present, funding for improving the human reference (U24 HG009081 and U41 HG00763504) has produced 2 haploid (hydatidiform moles) and 15 collapsed diploid human genomes using PacBio sequencing together with Bionano physical maps and 10X Genomics data. Efforts are currently underway to resolve these collapsed genomes into haplotype-resolved assemblies. The goal will be to generate a broader spectrum of human genetic variation with haplotype- resolved genomes. For this supplement, we propose to sample additional cell lines that will help to increase the human reference diversity through efforts at The McDonnell Genome Institute at Washington University, The University of Washington, and Nationwide Children?s Hospital.
To date, short-read WGS-based GWAS research studies have primarily involved samples with European ancestry with only 19% non-European. Current NIH-funded WGS projects are making a strong and concerted effort to increase diversity. A goal of this effort is to improve the available reference diversity to enable better read-mapping and interpretation that will facilitate research and clinical applications providing significant additions that will help with alignment to an improved and more diverse reference sequence.
| Kronenberg, Zev N; Fiddes, Ian T; Gordon, David et al. (2018) High-resolution comparative analysis of great ape genomes. Science 360: |
| Fiddes, Ian T; Armstrong, Joel; Diekhans, Mark et al. (2018) Comparative Annotation Toolkit (CAT)-simultaneous clade and personal genome annotation. Genome Res 28:1029-1038 |
| Kuderna, Lukas F K; Tomlinson, Chad; Hillier, LaDeana W et al. (2017) A 3-way hybrid approach to generate a new high-quality chimpanzee reference genome (Pan_tro_3.0). Gigascience 6:1-6 |
