Publications
Filters: Author is Zook, Justin M [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 ;.
. Assessing reproducibility of inherited variants detected with short-read whole genome sequencing. Genome Biol. 2022 ;23(1):2.
. Author Correction: A robust benchmark for detection of germline large deletions and insertions. Nat Biotechnol. 2020 ;38(11):1357.
. Author Correction: Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study. Nat Biotechnol. 2021 ;39(11):1466.
. Benchmarking challenging small variants with linked and long reads. Cell Genom. 2022 ;2(5).
. Chromosome-scale, haplotype-resolved assembly of human genomes. Nat Biotechnol. 2021 ;39(3):309-312.
. 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 diploid assembly-based benchmark for variants in the major histocompatibility complex. Nat Commun. 2020 ;11(1):4794.
. FixItFelix: improving genomic analysis by fixing reference errors. Genome Biol. 2023 ;24(1):31.
. Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes. Nat Methods. 2023 ;20(8):1213-1221.
. Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes. Nat Biotechnol. 2020 ;38(9):1044-1053.
. Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation. medRxiv. 2024 ;.
. Performance assessment of DNA sequencing platforms in the ABRF Next-Generation Sequencing Study. Nat Biotechnol. 2021 ;39(9):1129-1140.
. PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions. Cell Genom. 2022 ;2(5).
. A robust benchmark for detection of germline large deletions and insertions. Nat Biotechnol. 2020 ;38(11):1347-1355.
. A strategy for building and using a human reference pangenome. F1000Res. 2019 ;8:1751.
. Tools for annotation and comparison of structural variation. F1000Res. 2017 ;6:1795.
. Variant calling and benchmarking in an era of complete human genome sequences. Nat Rev Genet. 2023 ;24(7):464-483.
.