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Homozygosity Mapping using Whole-Exome Sequencing: A Valuable Approach for Pathogenic Variant Identification in Genetic Diseases.

Jorge OliveiraRute PereiraRosário SantosMário Sousa
Published in: BIOINFORMATICS (2017)
Keyphrases
  • identification rate
  • complex diseases
  • genetic algorithm
  • artificial neural networks
  • evolutionary algorithm
  • human genome
  • single nucleotide polymorphisms
  • tandem mass spectrometry