William T. Harvey

A draft human pangenome reference

Wen‐Wei Liao, Mobin Asri, Jana Ebler et al. · Nature · 2023 · 1K citations · Full text

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

Peter Ebert, Peter A. Audano, Qihui Zhu et al. · Science · 2021 · 753 citations · Full text

Structural Variation, Genetics, Molecular Biology +17

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

Xueya Zhou, Pamela Feliciano, Chang Shu et al. · Nature Genetics · 2022 · 423 citations · Full text

The complete sequence of a human Y chromosome

Arang Rhie, Sergey Nurk, Monika Čechová et al. · Nature · 2023 · 415 citations · Full text

Human Y Chromosome, Chromatin, Cytogenetics +7

The structure, function and evolution of a complete human chromosome 8

Glennis A. Logsdon, Mitchell R. Vollger, PingHsun Hsieh et al. · Nature · 2021 · 368 citations · Full text