Publications
Filters: Author is Chin, Chen-Shan [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.
. Benchmarking challenging small variants with linked and long reads. Cell Genom. 2022 ;2(5).
. Chromosomal-Level Assembly of the Asian Seabass Genome Using Long Sequence Reads and Multi-layered Scaffolding. PLoS Genet. 2016 ;12(4):e1005954.
. 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.
. Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. Genome Res. 2018 ;28(8):1126-1135.
. Correction: Chromosomal-Level Assembly of the Asian Seabass Genome Using Long Sequence Reads and Multi-layered Scaffolding. PLoS Genet. 2016 ;12(12):e1006500.
. 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.
. Genomic variant benchmark: if you cannot measure it, you cannot improve it. Genome Biol. 2023 ;24(1):221.
. Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes. Nat Methods. 2023 ;20(8):1213-1221.
. Phased diploid genome assembly with single-molecule real-time sequencing. Nat Methods. 2016 ;13(12):1050-1054.
. Shotgun transcriptome, spatial omics, and isothermal profiling of SARS-CoV-2 infection reveals unique host responses, viral diversification, and drug interactions. Nat Commun. 2021 ;12(1):1660.
. A strategy for building and using a human reference pangenome. F1000Res. 2019 ;8:1751.
.