Publications
Filters: Author is Li, Heng [Clear All Filters]
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects. Nat Commun. 2018 ;9(1):4038.
. Curated variation benchmarks for challenging medically relevant autosomal genes. Nat Biotechnol. 2022 ;40(5):672-680.
. The complete sequence of a human Y chromosome. Nature. 2023 ;621(7978):344-354.
. The complete sequence of a human genome. Science. 2022 ;376(6588):44-53.
. Chromosome-scale, haplotype-resolved assembly of human genomes. Nat Biotechnol. 2021 ;39(3):309-312.
. Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. Nat Biotechnol. 2019 ;37(10):1155-1162.
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