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Research

Characterizing cytosine methylation of polymorphic transposable element insertions using the human pangenome resources

  • First Published May 14, 2026
Method

Highly accurate assembly polishing with DeepPolisher

  • First Published May 19, 2025
Research

Gaps and complex structurally variant loci in phased genome assemblies

  • First Published May 10, 2023
Method

Laboratory validation of a clinical metagenomic sequencing assay for pathogen detection in cerebrospinal fluid

  • First Published April 16, 2019
Method

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

  • First Published June 8, 2018
Research

Evaluating recovery potential of the northern white rhinoceros from cryopreserved somatic cells

  • First Published May 24, 2018
Resource

A cloud-compatible bioinformatics pipeline for ultrarapid pathogen identification from next-generation sequencing of clinical samples

  • First Published June 4, 2014
Resource

GENCODE: The reference human genome annotation for The ENCODE Project

  • First Published September 5, 2012
Resource

Assemblathon 1: A competitive assessment of de novo short read assembly methods

  • First Published September 16, 2011
Resource

Cactus: Algorithms for genome multiple sequence alignment

  • First Published June 10, 2011
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