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Highly accurate assembly polishing with DeepPolisher

  • First Published May 19, 2025

Gaps and complex structurally variant loci in phased genome assemblies

  • First Published May 10, 2023

A complete pedigree-based graph workflow for rare candidate variant analysis

  • First Published April 28, 2022

A hidden layer of structural variation in transposable elements reveals potential genetic modifiers in human disease-risk loci

  • First Published March 24, 2022

Positive selection in noncoding genomic regions of vocal learning birds is associated with genes implicated in vocal learning and speech functions in humans

  • First Published October 19, 2021

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

  • First Published June 8, 2018

Yeast genetic interaction screen of human genes associated with amyotrophic lateral sclerosis: identification of MAP2K5 kinase as a potential drug target

  • First Published June 8, 2017

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

  • First Published April 10, 2017

Using reference-free compressed data structures to analyze sequencing reads from thousands of human genomes

  • First Published December 16, 2016

An extended set of yeast-based functional assays accurately identifies human disease mutations

  • First Published March 14, 2016
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