Synaptic abnormalities are a cardinal feature of Alzheimer's disease (AD) that are known to
arise as the disease progresses. A growing body of evidence suggests that pathological …

Genome-wide association studies have greatly improved our understanding of the genetic
basis of disease risk. The fact that they tend not to identify more than a fraction of the specific …

Risk for late-onset Alzheimer's disease (LOAD), the most prevalent dementia, is partially
driven by genetics. To identify LOAD risk loci, we performed a large genome-wide …

Computing in science and engineering is now ubiquitous: digital technologies underpin,
accelerate, and enable new, even transformational, research in all domains. Access to an …

As next-generation sequencing projects generate massive genome-wide sequence
variation data, bioinformatics tools are being developed to provide computational …

Single nucleotide variants represent a prevalent form of genetic variation. Mutations in the
coding regions are frequently associated with the development of various genetic diseases …

The effect of genetic mutation on phenotype is of significant interest in genetics. The type of
genetic mutation that causes a single amino acid substitution (AAS) in a protein sequence is …

DNA sequence information underpins genetic research, enabling discoveries of important
biological or medical benefit. Sequencing projects have traditionally used long (400–800 …

A 2.91-billion base pair (bp) consensus sequence of the euchromatic portion of the human
genome was generated by the whole-genome shotgun sequencing method. The 14.8-billion …

We present here a full update of the PMut predictor, active since 2005 and with a large
acceptance in the field of predicting Mendelian pathological mutations. PMut internal engine …