Public Health Relevance

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.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Biotechnology Resource Cooperative Agreements (U41)
Project #
1U41HG007635-01
Application #
8667135
Study Section
Special Emphasis Panel (ZHG1-HGR-M (J2))
Program Officer
Felsenfeld, Adam
Project Start
2014-09-15
Project End
2017-06-30
Budget Start
2014-09-15
Budget End
2015-06-30
Support Year
1
Fiscal Year
2014
Total Cost
$2,892,360
Indirect Cost
$439,274
Name
Washington University
Department
Genetics
Type
Schools of Medicine
DUNS #
068552207
City
Saint Louis
State
MO
Country
United States
Zip Code
63130
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

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