Corrigendum
Corrigendum: Evaluation of strategies for evidence-driven genome annotation using long-read RNA-seq
- First Published July 7, 2026
Editorial
Long reads decipher genomes and transcriptomes and offer novel insights into biology and diseases
- First Published April 14, 2025
Perspective
Notable challenges posed by long-read sequencing for the study of transcriptional diversity and genome annotation
- First Published March 3, 2025
Method
Quality assessment of long read data in multisample lrRNA-seq experiments using SQANTI-reads
- First Published March 3, 2025
Method
Evaluation of strategies for evidence-driven genome annotation using long-read RNA-seq
- First Published December 23, 2024
Editorial
Revolutionizing genomics and medicine—one long molecule at a time
- First Published November 20, 2024
Perspective
Short arms of human acrocentric chromosomes and the completion of the human genome sequence
- First Published March 31, 2022
Corrigendum
Corrigendum: SQANTI: extensive characterization of long-read transcript sequences for quality control in full-length transcriptome identification and quantification
- First Published July 2, 2018
Method
SQANTI: extensive characterization of long-read transcript sequences for quality control in full-length transcriptome identification and quantification
- First Published February 9, 2018
Research
Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection
- First Published December 13, 2017
Research
Disease-specific biases in alternative splicing and tissue-specific dysregulation revealed by multitissue profiling of lymphocyte gene expression in type 1 diabetes
- First Published October 12, 2017
Research
APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication
- First Published January 11, 2016
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
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
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
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