Genome and exome sequencing yield extensive catalogues of human genetic variation.
However, pinpointing the few phenotypically causal variants among the many variants …

Nonsynonymous single nucleotide polymorphisms (nsSNPs) are coding variants that
introduce amino acid changes in their corresponding proteins. Because nsSNPs can affect …

The rate at which nonsynonymous single nucleotide polymorphisms (ns SNP s) are being
identified in the human genome is increasing dramatically owing to advances in whole …

Several large ongoing initiatives that profit from next-generation sequencing technologies
have driven—and in coming years will continue to drive—the emergence of long catalogs of …

Single nucleotide polymorphisms (SNPs) are the simplest and most frequent form of human
DNA variation, also valuable as genetic markers of disease susceptibility. The most …

Many genetic variations are single nucleotide polymorphisms (SNPs). Non-synonymous
SNPs are 'neutral'if the resulting point-mutated protein is not functionally discernible from the …

Training and testing of conventional machine learning models on binary classification
problems depend on the proportions of the two outcomes in the relevant data sets. This may …

Congenital hypogonadotropic hypogonadism (CHH) and its anosmia-associated form
(Kallmann syndrome [KS]) are genetically heterogeneous. Among the> 15 genes implicated …

The study of molecular evolution at the level of protein-coding genes often entails comparing
large datasets of sequences to infer their evolutionary relationships. Despite the importance …

Methotrexate is used to treat autoimmune diseases and malignancies, including acute
lymphoblastic leukemia (ALL). Inter-individual variation in clearance of methotrexate results …