PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions

@inproceedings{Bendl2016PredictSNP2AU,
  title={PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions},
  author={Jaroslav Bendl and Milos Musil and Jan Stourac and Jaroslav Zendulka and Jir{\'i} Damborsk{\'y} and Jan Brezovsky},
  booktitle={PLoS Computational Biology},
  year={2016}
}
An important message taken from human genome sequencing projects is that the human population exhibits approximately 99.9% genetic similarity. Variations in the remaining parts of the genome determine our identity, trace our history and reveal our heritage. The precise delineation of phenotypically causal variants plays a key role in providing accurate personalized diagnosis, prognosis, and treatment of inherited diseases. Several computational methods for achieving such delineation have been… CONTINUE READING