Method
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease
- First Published March 20, 2025
Perspective
Unraveling the hidden complexity of cancer through long-read sequencing
- First Published March 20, 2025
Review
k-mer approaches for biodiversity genomics" > k-mer approaches for biodiversity genomics
- First Published January 31, 2025
Method
Gapless assembly of complete human and plant chromosomes using only nanopore sequencing
- First Published November 6, 2024
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
Research
Differences in activity and stability drive transposable element variation in tropical and temperate maize
- First Published September 9, 2024
Resource
Interspecies regulatory landscapes and elements revealed by novel joint systematic integration of human and mouse blood cell epigenomes
- First Published July 1, 2024
Perspective
Short arms of human acrocentric chromosomes and the completion of the human genome sequence
- First Published March 31, 2022
Research
The genomic basis of evolutionary differentiation among honey bees
- First Published May 4, 2021
Method
Optimized sample selection for cost-efficient long-read population sequencing
- First Published April 2, 2021
Research
Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing
- First Published September 4, 2020
Research
Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line
- First Published June 28, 2018
Research
Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection
- First Published December 13, 2017
Research
The evolution of inflorescence diversity in the nightshades and heterochrony during meristem maturation
- First Published November 7, 2016
Research
APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication
- First Published January 11, 2016
Method
Oxford Nanopore sequencing, hybrid error correction, and de novo assembly of a eukaryotic genome
- First Published October 7, 2015
Research
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders
- First Published April 27, 2015
Resource
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster
- First Published January 3, 2014
Research
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
- First Published June 19, 2013
Resource
Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome
- First Published May 28, 2013
Resource
GAGE: A critical evaluation of genome assemblies and assembly algorithms
- First Published December 6, 2011
Resource
Assemblathon 1: A competitive assessment of de novo short read assembly methods
- First Published September 16, 2011
Research
DNA methylation profiles of human active and inactive X chromosomes
- First Published August 23, 2011
Method
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15
- First Published July 14, 2010
Perspective
Assembly of large genomes using second-generation sequencing
- First Published May 27, 2010
Methods
Transcriptional and post-transcriptional profile of human chromosome 21
- First Published July 6, 2009
RESOURCE
Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21
- First Published September 25, 2007
ARTICLE
Prominent use of distal 5′ transcription start sites and discovery of a large number of additional exons in ENCODE regions
- First Published June 13, 2007
ARTICLE
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome
- First Published June 13, 2007
LETTER
Pseudogenes in the ENCODE regions: Consensus annotation, analysis of transcription, and evolution
- First Published June 13, 2007
LETTER
Structured RNAs in the ENCODE selected regions of the human genome
- First Published June 13, 2007
LETTER
Tandem chimerism as a means to increase protein complexity in the human genome
- First Published December 12, 2005
LETTER
Gene Expression From the Aneuploid Chromosome in a Trisomy Mouse Model of Down Syndrome
- First Published July 1, 2004
ARTICLE
Patterns of Meiotic Recombination on the Long Arm of Human Chromosome 21
- First Published September 1, 2000
LETTER
A High-Resolution Physical Map of Human Chromosome 21p Using Yeast Artificial Chromosomes
- First Published November 1, 1999