Author: Mark Diekhans

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Preprints

Towards complete and error-free genome assemblies of all vertebrate species

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Progressive alignment with Cactus: a multiple-genome aligner for the thousand-genome era

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Comparative Annotation Toolkit (CAT) - simultaneous clade and personal genome annotation

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The shrinking human protein coding complement: are there fewer than 20,000 genes?

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Multiple laboratory mouse reference genomes define strain specific haplotypes and novel functional loci

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The UCSC Genome Browser database: 2016 update

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Pseudogenes in the mouse lineage: transcriptional activity and strain-specific history

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Identification of high confidence human poly(A) RNA isoform scaffolds using nanopore sequencing

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Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons

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