The reference human genome sequence is a powerful tool for research. However, portions of the sequence remain incorrect or missing. Also, ethnically diverse genome sequence data from several individuals will be added so that the reference genome sequence will be more useful for a broader number of experimental and clinical applications. In addition to remedying these problems, we will also provide community training.
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 |
Cantsilieris, Stuart; Nelson, Bradley J; Huddleston, John et al. (2018) Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family. Proc Natl Acad Sci U S A 115:E4433-E4442 |
Schneider, Valerie A; Graves-Lindsay, Tina; Howe, Kerstin et al. (2017) Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly. Genome Res 27:849-864 |
Huddleston, John; Chaisson, Mark J P; Steinberg, Karyn Meltz et al. (2017) Discovery and genotyping of structural variation from long-read haploid genome sequence data. Genome Res 27:677-685 |
Dennis, Megan Y; Harshman, Lana; Nelson, Bradley J et al. (2017) The evolution and population diversity of human-specific segmental duplications. Nat Ecol Evol 1:69 |
Gordon, David; Huddleston, John; Chaisson, Mark J P et al. (2016) Long-read sequence assembly of the gorilla genome. Science 352:aae0344 |
Shi, Lingling; Guo, Yunfei; Dong, Chengliang et al. (2016) Long-read sequencing and de novo assembly of a Chinese genome. Nat Commun 7:12065 |
Mohajeri, Kiana; Cantsilieris, Stuart; Huddleston, John et al. (2016) Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region. Genome Res 26:1453-1467 |
Chaisson, Mark J P; Huddleston, John; Dennis, Megan Y et al. (2015) Resolving the complexity of the human genome using single-molecule sequencing. Nature 517:608-11 |
Showing the most recent 10 out of 13 publications