Proceedings of VarI-COSI 2018: identification and annotation of genetic variants in the context of structure, function, and disease: genomics

VarI-COSI 2018: a forum for research advances in variant interpretation and diagnostics

Authors: Yana Bromberg, Emidio Capriotti and Hannah Carter

Recurrent miscalling of missense variation from short-read genome sequence data

Short-read resequencing of genomes produces abundant information of the genetic variation of individuals. Due to their numerous nature, these variants are rarely exhaustively validated. Furthermore, low levels...

Authors: Matthew A. Field, Gaetan Burgio, Aaron Chuah, Jalila Al Shekaili, Batool Hassan, Nashat Al Sukaiti, Simon J. Foote, Matthew C. Cook and T. Daniel Andrews

Assessing cell-specific effects of genetic variations using tRNA microarrays

By definition, effect of synonymous single-nucleotide variants (SNVs) on protein folding and function are neutral, as they alter the codon and not the encoded amino acid. Recent examples indicate tissue-specif...

Authors: Christine Polte, Daniel Wedemeyer, Kathryn E. Oliver, Johannes Wagner, Marcel J. C. Bijvelds, John Mahoney, Hugo R. de Jonge, Eric J. Sorscher and Zoya Ignatova

Benchmarking subcellular localization and variant tolerance predictors on membrane proteins

Membrane proteins constitute up to 30% of the human proteome. These proteins have special properties because the transmembrane segments are embedded into lipid bilayer while extramembranous parts are in differ...

Authors: Tommaso Orioli and Mauno Vihinen

A clinically validated whole genome pipeline for structural variant detection and analysis

With the continuing decrease in cost of whole genome sequencing (WGS), we have already approached the point of inflection where WGS testing has become economically feasible, facilitating broader access to the ...

Authors: Nir Neerman, Gregory Faust, Naomi Meeks, Shira Modai, Limor Kalfon, Tzipora Falik-Zaccai and Alexander Kaplun

Relation between DNA ionization potentials, single base substitutions and pathogenic variants

It is nowadays clear that single base substitutions that occur in the human genome, of which some lead to pathogenic conditions, are non-random and influenced by their flanking nucleobase sequences. However, d...

Authors: Fabrizio Pucci and Marianne Rooman

PhenPath: a tool for characterizing biological functions underlying different phenotypes

Many diseases are associated with complex patterns of symptoms and phenotypic manifestations. Parsimonious explanations aim at reconciling the multiplicity of phenotypic traits with the perturbation of one or ...

Authors: Giulia Babbi, Pier Luigi Martelli and Rita Casadio