Publications

Logsdon et al., Complex genetic variation in nearly complete human genomes, accepted in principle: Nature, DOI (preprint): 10.1101/2024.09.24.614721

Porubsky et al., Human de novo mutation rates from a four-generation pedigree reference, accepted in principle: Nature, DOI (preprint): 10.1101/2024.08.05.606142

Henglin et al., Graphasing: phasing diploid genome assembly graphs with single-cell strand sequencing, Genome Biology 2024, DOI: 10.1186/s13059-024-03409-1

Hallast et al., Assembly of 43 human Y chromosomes reveals extensive complexity and variation, Nature 2023, DOI: 10.1038/s41586-023-06425-6

Harvey et al., Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall, Genome Research 2023, DOI: 10.1101/gr.278070.123

Brandes et al., Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood ETV6::RUNX1+ and High Hyperdiploid Acute Lymphoblastic Leukemia, Hemasphere 2023, DOI: 10.1097/HS9.0000000000000925

Liao et al., A draft human pangenome reference, Nature 2023, DOI: 10.1038/s41586-023-05896-x