… In such cases we acknowledge that the suggestive evidence pointing to a gene’s potential
implication can nevertheless be valuable in future clinical and research investigations, and …

… Fisher 's exact test was used to calculate P values after sample size extrapolations. …
Romeo, S. et al. Rare loss-of-function mutations in ANGPTL family members contribute to …

The set of disease-causing mutations in human proteins with known structures was
extracted from the SWISS-PROT database by keyword search followed by an analysis of the …

Major international projects are underway that are aimed at creating a comprehensive catalogue
of all the genes responsible for the initiation and progression of cancer 1 , 2 , 3 , 4 , 5 , 6 …

The reference human genome sequence set the stage for studies of genetic variation and
its association with human disease, but epigenomic studies lack a similar reference. To …

2). For instance, in this setting with m= 10 and q= 10, IDA found 4, 4, 5, 1 and 2 true positives
for the five different networks, whereas Lasso found 1, 1, 0, 1 and 2 true positives and …

… of pathogenic cell types for Crohn’s disease, multiple sclerosis, and … Although Crohn’s
pathology has classically been associated … any prior knowledge about Crohn’s disease pathology. …

DNase I hypersensitive sites (DHSs) are markers of regulatory DNA and have underpinned
the discovery of all classes of cis-regulatory elements including enhancers, promoters, …

Autism spectrum disorders (ASD) are believed to have genetic and environmental origins,
yet in only a modest fraction of individuals can specific causes be identified 1 , 2 . To identify …

… We used Fisher’s exact test, a robust approach for aggregate testing of rare variation at a
locus (27), to determine the power to detect an association for each gene harboring rare causal …