Publications
Analysis and benchmarking of small and large genomic variants across tandem repeats. Nat Biotechnol. 2024 ;.
. Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes. Nat Methods. 2023 ;20(8):1213-1221.
. Variant calling and benchmarking in an era of complete human genome sequences. Nat Rev Genet. 2023 ;24(7):464-483.
. Benchmarking challenging small variants with linked and long reads. Cell Genom. 2022 ;2(5).
. A complete reference genome improves analysis of human genetic variation. Science. 2022 ;376(6588):eabl3533.
. The complete sequence of a human genome. Science. 2022 ;376(6588):44-53.
. Curated variation benchmarks for challenging medically relevant autosomal genes. Nat Biotechnol. 2022 ;40(5):672-680.
. . A diploid assembly-based benchmark for variants in the major histocompatibility complex. Nat Commun. 2020 ;11(1):4794.
. A strategy for building and using a human reference pangenome. F1000Res. 2019 ;8:1751.
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