Research
RET regulatory code is disrupted in Hirschsprung disease" > A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease
- First Published November 15, 2021
Method
Sequence-based correction of barcode bias in massively parallel reporter assays
- First Published July 20, 2021
Resource
Discovery of high-confidence human protein-coding genes and exons by whole-genome PhyloCSF helps elucidate 118 GWAS loci
- First Published September 19, 2019
Method
Shotgun proteomics aids discovery of novel protein-coding genes, alternative splicing, and “resurrected” pseudogenes in the mouse genome
- First Published April 1, 2011
Methods
On the probability that a novel variant is a disease-causing mutation
- First Published June 17, 2005