Publications
Filters: Author is Olson, Nathan D [Clear All Filters]
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. Nat Biotechnol. 2019 ;37(10):1155-1162.
. Analysis and benchmarking of small and large genomic variants across tandem repeats. Nat Biotechnol. 2024 ;.
. Author Correction: A robust benchmark for detection of germline large deletions and insertions. Nat Biotechnol. 2020 ;38(11):1357.
. 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.
. The complete sequence of a human Y chromosome. Nature. 2023 ;621(7978):344-354.
. Curated variation benchmarks for challenging medically relevant autosomal genes. Nat Biotechnol. 2022 ;40(5):672-680.
. .
.
A robust benchmark for detection of germline large deletions and insertions. Nat Biotechnol. 2020 ;38(11):1347-1355.
. Variant calling and benchmarking in an era of complete human genome sequences. Nat Rev Genet. 2023 ;24(7):464-483.
.