Research
Characterizing cytosine methylation of polymorphic transposable element insertions using the human pangenome resources
- First Published May 14, 2026
Research
Assessing DNA methylation detection for primary human tissue using Nanopore sequencing
- First Published March 7, 2025
Method
Phased nanopore assembly with Shasta and modular graph phasing with GFAse
- First Published April 16, 2024
Research
Gaps and complex structurally variant loci in phased genome assemblies
- First Published May 10, 2023
Method
A complete pedigree-based graph workflow for rare candidate variant analysis
- First Published April 28, 2022
Research
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
Method
Ancestry-agnostic estimation of DNA sample contamination from sequence reads
- First Published January 24, 2020
Method
Chromosome assembly of large and complex genomes using multiple references
- First Published October 19, 2018
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
Research
Repeat associated mechanisms of genome evolution and function revealed by the Mus caroli and Mus pahari genomes
- First Published March 21, 2018
Method
Identifying cis-mediators for trans-eQTLs across many human tissues using genomic mediation analysis
- First Published October 11, 2017
Method
Co-expression networks reveal the tissue-specific regulation of transcription and splicing
- First Published October 11, 2017
Research
Improved genome assembly of American alligator genome reveals conserved architecture of estrogen signaling
- First Published January 30, 2017
Method
An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data
- First Published April 16, 2015
Resource
Alignathon: a competitive assessment of whole-genome alignment methods
- First Published October 1, 2014
Research
The influence of genomic context on mutation patterns in the human genome inferred from rare variants
- First Published August 29, 2013
Resource
Assemblathon 1: A competitive assessment of de novo short read assembly methods
- First Published September 16, 2011
Resource
Low-coverage sequencing: Implications for design of complex trait association studies
- First Published April 1, 2011
Methods
Enredo and Pecan: Genome-wide mammalian consistency-based multiple alignment with paralogs
- First Published October 10, 2008
Methods
Genome-wide nucleotide-level mammalian ancestor reconstruction
- First Published October 10, 2008
ARTICLE
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome
- First Published June 13, 2007
LETTER
Sequence features in regions of weak and strong linkage disequilibrium
- First Published October 26, 2005