The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

The structure, function, and evolution of proteins depend on physical and genetic
interactions among amino acids. Recent studies have used new strategies to explore the …

Personalized genome sequencing has revealed millions of genetic differences between
individuals, but our understanding of their clinical relevance remains largely incomplete. To …

Abstract Germline SAMD9 and SAMD9L mutations (SAMD9/9L mut) predispose to
myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we …

Variants of TREM2 are associated with Alzheimer's disease (AD). To study whether
increasing TREM2 gene dosage could modify the disease pathogenesis, we developed …

Genome-wide association studies (GWAS) have identified over 100 risk loci for
schizophrenia, but the causal mechanisms remain largely unknown. We performed a …

The same mutation can have different effects in different individuals. One important reason
for this is that the outcome of a mutation can depend on the genetic context in which it …

To what extent is the convergent evolution of protein function attributable to convergent or
parallel changes at the amino acid level? The mutations that contribute to adaptive protein …

Germline inactivating mutations of isoform 4 of phosphodiesterase (PDE) 11A (coded by the
PDE11A gene) have been associated with familial adrenocortical tumors and familial …

INTRODUCTION Genetic suppression occurs when the phenotypic defects caused by a
mutated gene are rescued by a mutation in another gene. These genetic interactions can …