Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization.

MutationTaster2021.

Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.

SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data.

FATHMM-XF: accurate prediction of pathogenic point mutations via extended features.

Mutational signatures and mutable motifs in cancer genomes.

An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome.

When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants.

The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease.

Mining clinical attributes of genomic variants through assisted literature curation in Egas.

An integrative approach to predicting the functional effects of non-coding and coding sequence variation.

DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels.

A Probabilistic Model to Predict Clinical Phenotypic Traits from Genome Sequencing.

Predicting the functional consequences of cancer-associated amino acid substitutions.

CRAVAT: cancer-related analysis of variants toolkit.

regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions.

Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease.

Automated inference of molecular mechanisms of disease from amino acid substitutions.

In Silico Discrimination of Single Nucleotide Polymorphisms and Pathological Mutations in Human Gene Promoter Regions by Means of Local DNA Sequence Context and Regularity.

The human gene mutation database.