Publications
Filters: Author is Paten, Benedict [Clear All Filters]
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res. 2007 ;17(6):760-74.
. Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species. Gigascience. 2013 ;2(1):10.
. 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.
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Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature. 2007 ;447(7146):799-816.
. Identification of constrained sequence elements across 239 primate genomes. Nature. 2024 ;625(7996):735-742.
. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat. 2015 ;36(10):915-21.
. Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes. Nat Biotechnol. 2020 ;38(9):1044-1053.
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Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation. Nat Methods. 2023 ;20(10):1483-1492.
. Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation. bioRxiv. 2023 ;.
. Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility. Science. 2020 ;370(6523).
. A strategy for building and using a human reference pangenome. F1000Res. 2019 ;8:1751.
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