VarI-SIG 2015: methods for personalized medicine – the role of variant interpretation in research and diagnostics

Authors: Yana Bromberg, Emidio Capriotti and Hannah Carter

VarElect: the phenotype-based variation prioritizer of the GeneCards Suite

Next generation sequencing (NGS) provides a key technology for deciphering the genetic underpinnings of human diseases. Typical NGS analyses of a patient depict tens of thousands non-reference coding variants,...

Authors: Gil Stelzer, Inbar Plaschkes, Danit Oz-Levi, Anna Alkelai, Tsviya Olender, Shahar Zimmerman, Michal Twik, Frida Belinky, Simon Fishilevich, Ron Nudel, Yaron Guan-Golan, David Warshawsky, Dvir Dahary, Asher Kohn, Yaron Mazor, Sergey Kaplan…

KinMutRF: a random forest classifier of sequence variants in the human protein kinase superfamily

The association between aberrant signal processing by protein kinases and human diseases such as cancer was established long time ago. However, understanding the link between sequence variants in the protein k...

Authors: Tirso Pons, Miguel Vazquez, María Luisa Matey-Hernandez, Søren Brunak, Alfonso Valencia and Jose MG Izarzugaza

Establishing and validating regulatory regions for variant annotation and expression analysis

The regulatory effect of inherited or de novo genetic variants occurring in promoters as well as in transcribed or even coding gene regions is gaining greater recognition as a contributing factor to disease proce...

Authors: Alexander Kaplun, Mathias Krull, Karthick Lakshman, Volker Matys, Birgit Lewicki and Jennifer D. Hogan

A loss of function variant in CASP7 protects against Alzheimer’s disease in homozygous APOE ε4 allele carriers

Alzheimer’s disease (AD) represents the most common form of dementia in elder populations with approximately 30 million cases worldwide. Genome wide genotyping and sequencing studies have identified many genet...

Authors: Kristin L. Ayers, Uyenlinh L. Mirshahi, Amr H. Wardeh, Michael F. Murray, Ke Hao, Benjamin S. Glicksberg, Shuyu Li, David J. Carey and Rong Chen

Large scale analysis of protein stability in OMIM disease related human protein variants

Modern genomic techniques allow to associate several Mendelian human diseases to single residue variations in different proteins. Molecular mechanisms explaining the relationship among genotype and phenotype a...

Authors: Pier Luigi Martelli, Piero Fariselli, Castrense Savojardo, Giulia Babbi, Francesco Aggazio and Rita Casadio

Hotspot mutations delineating diverse mutational signatures and biological utilities across cancer types

An important step towards personalizing cancer treatment is to integrate heterogeneous evidences to catalog mutational hotspots that are biologically and therapeutically relevant and thus represent where targe...

Authors: Tenghui Chen, Zixing Wang, Wanding Zhou, Zechen Chong, Funda Meric-Bernstam, Gordon B. Mills and Ken Chen

Negative selection maintains transcription factor binding motifs in human cancer

Somatic mutations in cancer cells affect various genomic elements disrupting important cell functions. In particular, mutations in DNA binding sites recognized by transcription factors can alter regulator bind...

Authors: Ilya E. Vorontsov, Grigory Khimulya, Elena N. Lukianova, Daria D. Nikolaeva, Irina A. Eliseeva, Ivan V. Kulakovskiy and Vsevolod J. Makeev