Article
VarElect: the phenotype-based variation prioritizer of the GeneCards Suite.
BMC genomics - 23 Jun 2016
Stelzer Gil, Plaschkes Inbar, Oz-Levi Danit, Alkelai Anna, Olender Tsviya, Zimmerman Shahar, Twik Michal, Belinky Frida, Fishilevich Simon, Nudel Ron, Guan-Golan Yaron, Warshawsky David, Dahary Dvir, Kohn Asher, Mazor Yaron, Kaplan Sergey, Iny Stein Tsippi, Baris Hagit N, Rappaport Noa, Safran Marilyn, Lancet Doron
Abstract excerpt
BACKGROUND: 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, but only one or very few are expected to be significant for the relevant disorder. In a filtering stage, one employs family segregation, rarity in the population, predicted protein impact and...
Topics
- Algorithms
- Computational Biology
- Data Mining
- Databases, Genetic
- Genome, Human
- High-Throughput Nucleotide Sequencing
- Humans
- Phenotype