Resource
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation
- First Published October 2, 2024
Resource
Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR
- First Published August 15, 2024
Resource
Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome
- First Published June 11, 2019
Resource
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
- First Published April 10, 2017
Method
Using reference-free compressed data structures to analyze sequencing reads from thousands of human genomes
- First Published December 16, 2016
Method
An extended set of yeast-based functional assays accurately identifies human disease mutations
- First Published March 14, 2016
Resource
Assemblathon 1: A competitive assessment of de novo short read assembly methods
- First Published September 16, 2011
Method
Revealing the genetic structure of a trait by sequencing a population under selection
- First Published March 21, 2011
Resource
C. elegans ORFeome" > Large-scale RACE approach for proactive experimental definition of C. elegans ORFeome
- First Published October 2, 2009