Research
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders
- First Published September 19, 2024
Resource
Allele-specific transcription factor binding across human brain regions offers mechanistic insight into eQTLs
- First Published August 16, 2024
Method
cis-regulatory elements" > Probabilistic association of differentially expressed genes with cis-regulatory elements
- First Published April 17, 2024
Research
Genome-wide strand asymmetry in massively parallel reporter activity favors genic strands
- First Published April 20, 2021
Corrigendum
Corrigendum: A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity
- First Published May 1, 2018
Resource
A genome-wide interactome of DNA-associated proteins in the human liver
- First Published October 11, 2017
Research
A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity
- First Published November 9, 2016
Research
Promoter-distal RNA polymerase II binding discriminates active from inactive CCAAT/ enhancer-binding protein beta binding sites
- First Published October 20, 2015
Method
Read clouds uncover variation in complex regions of the human genome
- First Published August 18, 2015
Method
Discovery of recurrent structural variants in nasopharyngeal carcinoma
- First Published November 8, 2013
Research
The origin, evolution, and functional impact of short insertion–deletion variants identified in 179 human genomes
- First Published March 11, 2013
Method
Ubiquitous heterogeneity and asymmetry of the chromatin environment at regulatory elements
- First Published September 5, 2012
Resource
ChIP-seq guidelines and practices of the ENCODE and modENCODE consortia
- First Published September 5, 2012
Letter
Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes
- First Published January 12, 2010
Resource
ProPhylER: A curated online resource for protein function and structure based on evolutionary constraint analyses
- First Published October 21, 2009
Methods
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
- First Published June 8, 2009
PERSPECTIVE
Qualifying the relationship between sequence conservation and molecular function
- First Published February 1, 2008
ARTICLE
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome
- First Published June 13, 2007
ARTICLE
De novo discovery of a tissue-specific gene regulatory module in a chordate
- First Published September 16, 2005
ARTICLE
Distribution and intensity of constraint in mammalian genomic sequence
- First Published June 17, 2005
Methods
Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity
- First Published June 17, 2005
Methods
Automated Whole-Genome Multiple Alignment of Rat, Mouse, and Human
- First Published April 1, 2004
LETTER
Characterization of Evolutionary Rates and Constraints in Three Mammalian Genomes
- First Published April 1, 2004
LETTER
Quantitative Estimates of Sequence Divergence for Comparative Analyses of Mammalian Genomes
- First Published May 1, 2003
METHODS
LAGAN and Multi-LAGAN: Efficient Tools for Large-Scale Multiple Alignment of Genomic DNA
- First Published March 12, 2003
LETTER
Partitioning of Tissue Expression Accompanies Multiple Duplications of the Na+/K+ ATPase α Subunit Gene
- First Published September 20, 2001