MendelChecker is a likelihood-based measure of Mendelian segregation of Single Nucleotide Polymorphisms (SNPs) in nuclear pedigrees. We developed this method as a quality control measure for novel variant discovery from noisy next-generation sequencing data in pedigrees, such as Restriction site-associated DNA Sequencing (RAD-seq) in non-model organisms. This method implements comparison of heterogametic vs. homogametic transmission, i.e., sex linked vs. autosomal segregation.

Features

  • Measure likelihood of Mendelian transmission in pedigrees
  • Autosome vs. sex chromosome assignment
  • Reads standard GATK output

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Categories

Bio-Informatics

License

GNU General Public License version 3.0 (GPLv3)

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Registered

2014-04-25