Award

The construction and utility of reference pan-genome graphs

Description: PROJECT NARRATIVE The human reference genome sequence is at the heart of all sequence-related biomedical research, such as population genetics, phenotype association, cancer genomics and sequencing based diagnostics and disease treatment. The proposed studies aim to deliver a more complete human reference genome and tools supporting the new representation. The success of this proposal could push the study of complex human variations and their association with diseases to the next level.
Funding type: cooperative_agreement
Funder scheme: U01
Start date: 2020-03-01
End date: 2024-02-29
Investigator: HENG LI
Institution: DANA-FARBER CANCER INST
Funded outputs count: 76
Funder award ID: U01HG010961
OpenAlex ID: G8969870
2026 · Jouni Sirén, Benedict Paten, et al. · Bioinformatics
2026 · Jordan Eizenga, Mira Mastoras, et al. · bioRxiv (Cold Spring Harbor Laboratory)
2026 · Prajna Hebbar, Tamara Potapova, et al. · Cell · 2
2026 · Julian K. Lucas, Prajna Hebbar, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 20
2026 · Pille Hallast, Arang Rhie, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 1
2026 · Mobin Asri, Jordan M. Eizenga, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 8
2025 · Joshua Rubin, Jan van Waaij, et al. · NAR Genomics and Bioinformatics · 1
2025 · Megan K Le, Qian Qin, et al. · Genomics Proteomics & Bioinformatics · 4
2025 · Mobin Asri, Pi-Chuan Chang, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 10
2025 · Mira Mastoras, Mobin Asri, et al. · Genome Research · 17
2025 · M.M. Zwartkruis, M.G. Elferink, et al. · Genome Medicine · 15
2024 · Heng Li · Bioinformatics · 25
2024 · Jouni Sirén, Parsa Eskandar, et al. · Nature Methods · 44
2024 · Katsuhiro Kita, Celine Morkos, et al. · World Journal of Methodology · 1
2024 · Alexey Kolesnikov, Daniel Cook, et al. · Nature Communications · 26
2024 · Heng Li, Maximillian Marin, et al. · Bioinformatics · 37
2024 · Ying Zhou, Li Song, et al. · Genome Research · 25
2024 · Haoyu Cheng, Mobin Asri, et al. · Nature Methods · 222
2024 · Dylan J. Taylor, Jordan M. Eizenga, et al. · Annual Review of Genomics and Human Genetics · 50
2024 · Ryan Lorig-Roach, Melissa Meredith, et al. · Genome Research · 22
2024 · Yafei Mao, William T. Harvey, et al. · Cell · 71
2024 · Ying Zhou, Li Song, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 4
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