HPRC Publications
There are several HPRC publications in development at this time. Please check back for updates and follow us on Twitter @HumanPangenome. Below is a selection of publications from the HPRC membership.
Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs
Tsung-Yu Lu, Human Genome Structural Variation Consortium, Mark Chaisson.
2021-07-12
Targeted long-read sequencing identifies missing disease-causing variation
Miller, D., Sulovari, A., Wang, T., et al.
2021-07-02
lra: A long read aligner for sequences and contigs
Jingwen Ren, Mark Chaisson.
2021-06-21
The qBED track: a novel genome browser visualization for point processes
Moudgil, A., Li, D., Hsu, S., et al.
2021-05-23
Common DNA methylation dynamics in endometriod adenocarcinoma and glioblastoma suggest universal epigenomic alterations in tumorigenesis
Karlow, J., Miao, B., Xing, X., et al.
2021-05-21
A high-quality bonobo genome refines the analysis of hominid evolution
Mao, Y., Catacchio, C., Hillier, L., et al.
2021-05-05
The Need for a Human Pangenome Reference Sequence
Miga, K., Wang, T.
2021-04-30
Human placental cytotrophoblast epigenome dynamics over gestation and alterations in placental disease
Zhang, B., Kim, B., Elliot, G., et al.
2021-04-20
Profiling SARS-CoV-2 mutation fingerprints that range from the viral pangenome to individual infection quasispecies
Lau, B., Pavlichin, D., Hooker, A., et al.
2021-04-19
The structure, function and evolution of a complete human chromosome 8
Logsdon, G., Vollger, M., Hsieh, P., et al.
2021-04-07
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
Ebert, P., Audano, P., Zhu, Q., et al.
2021-02-25
Haplotype-resolved de novo assembly using phased assembly graphs with hifiasm
Cheng, H., Concepcion, G., Feng, X., et al.
2021-02-01
Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads
Porubsky, D., et al.
2020-12-07
Chromosome-scale, haplotype-resolved assembly of human genomes
Garg, S., Fungtammasan, A., Carroll, A., et al.
2020-12-07
A map of cis-regulatory elements and 3D genome structures in zebrafish
Yang, H., Luan, Y., Liu, T., et al.
2020-11-25
The design and construction of reference pangenome graphs with minigraph
Li, H., Feng, X., Chu, C.
2020-10-16
Cell-type-specific 3D epigenomes in the developing human cortex
Song, M., Pebworth, M., Yang, X., et al.
2020-10-14
Tissue-specific usage of transposable element-derived promoters in mouse development
Miao, B., Fa, S., Lyu, C., et al.
2020-09-28
Telomere-to-telomere assembly of a complete human X chromosome
Miga, K., Koren, S., Rhie, A. et al.
2020-07-14
Epigenomics and genotype-phenotype association analyses reveal conserved genetic architecture of complex traits in cattle and human
Liu, S., Yu, Y., Zhang, S., et al.
2020-07-03
The design and construction of reference pangenome graphs
Li, H., Feng, X., Chu, C.
2020-03-13
Genotyping structural variants in pangenome graphs using the vg toolkit
Hickey, G., Heller, D., Monlong, J., et al.
2020-02-12
A fully phased accurate assembly of an individual human genome
Porubsky, D., Ebert, P., Audano, P., et al.
2019-11-26
Efficient de novo assembly of eleven human genomes using PromethION sequencing and a novel nanopore toolkit
Shafin, K., Pesout, T., Lorig-Roach, R., et al.
2019-07-26
Progressive alignment with Cactus: a multiple-genome aligner for the thousand-genome era
Armstrong, J., Hickey, G., Diekhans, M., et al.
2019-10-09
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We would like to acknowledge the National Genome Research Institute (NHGRI) for funding the following grants supporting the creation of the human pangenome reference: 1U41HG010972, 1U01HG010971, 1U01HG010961, 1U01HG010973, 1U01HG010963, and the Human Pangenome Reference Consortium.