Method
Modeling Niemann–Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation
- First Published November 21, 2019
Method
Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome
- First Published September 5, 2012
Method
Estimation of alternative splicing variability in human populations
- First Published November 23, 2011