Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders
- First Published September 19, 2024
Allele-specific transcription factor binding across human brain regions offers mechanistic insight into eQTLs
- First Published August 16, 2024
cis-regulatory elements" > Probabilistic association of differentially expressed genes with cis-regulatory elements
- First Published April 17, 2024
Genome-wide strand asymmetry in massively parallel reporter activity favors genic strands
- First Published April 20, 2021
A genome-wide interactome of DNA-associated proteins in the human liver
- First Published October 11, 2017
A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity
- First Published November 9, 2016
Promoter-distal RNA polymerase II binding discriminates active from inactive CCAAT/ enhancer-binding protein beta binding sites
- First Published October 20, 2015
DIS3 shapes the RNA polymerase II transcriptome in humans by degrading a variety of unwanted transcripts
- First Published August 20, 2015
Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes
- First Published January 12, 2010
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
- First Published June 8, 2009
Qualifying the relationship between sequence conservation and molecular function
- First Published February 1, 2008
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome
- First Published June 13, 2007
Distribution and intensity of constraint in mammalian genomic sequence
- First Published June 17, 2005
Characterization of Evolutionary Rates and Constraints in Three Mammalian Genomes
- First Published April 1, 2004
Quantitative Estimates of Sequence Divergence for Comparative Analyses of Mammalian Genomes
- First Published May 1, 2003
LAGAN and Multi-LAGAN: Efficient Tools for Large-Scale Multiple Alignment of Genomic DNA
- First Published March 12, 2003