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The identification of disease causing variants in the list of all variants called in sequencing data, is often achieved by the sequential use of various heuristic filters with several underlying assumptions. We describe the R package “Mendelian” that offers fast and convenient filters to analyze putative variants under both recessive and dominant models of inheritance, with variable degrees of penetrance and detectance. Analysis of pedigrees, including trios, is supported. Filtering against variant databases and annotation of variants is also included. Finally, this package is not species specific and supports parallel computation.

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Citation

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Chicago
Broeckx, Bart, Frank Coopman, Geert Verhoeven, Dieter Deforce, and Filip Van Nieuwerburgh. 2015. “Heuristic Filtering of Sequencing Variants with the R-package ‘Mendelian’.” In The 8th International Conference on Advances in Canine and Feline Genomics and Inherited Disease : Conference Proceedings and Abstract Booklet, 79–79.
APA
Broeckx, B., Coopman, F., Verhoeven, G., Deforce, D., & Van Nieuwerburgh, F. (2015). Heuristic filtering of sequencing variants with the R-package “Mendelian.” The 8th international conference on advances in canine and feline genomics and inherited disease : conference proceedings and abstract booklet (pp. 79–79). Presented at the 8th International conference on Advances in Canine and Feline Genomics and Inherited Diseases.
Vancouver
1.
Broeckx B, Coopman F, Verhoeven G, Deforce D, Van Nieuwerburgh F. Heuristic filtering of sequencing variants with the R-package “Mendelian.”The 8th international conference on advances in canine and feline genomics and inherited disease : conference proceedings and abstract booklet. 2015. p. 79–79.
MLA
Broeckx, Bart, Frank Coopman, Geert Verhoeven, et al. “Heuristic Filtering of Sequencing Variants with the R-package ‘Mendelian’.” The 8th International Conference on Advances in Canine and Feline Genomics and Inherited Disease : Conference Proceedings and Abstract Booklet. 2015. 79–79. Print.
@inproceedings{7023228,
  abstract     = {The identification of disease causing variants in the list of all variants called in sequencing data, is often achieved by the sequential use of various heuristic filters with several underlying assumptions. We describe the R package {\textquotedblleft}Mendelian{\textquotedblright} that offers fast and convenient filters to analyze putative variants under both recessive and dominant models of inheritance, with variable degrees of penetrance and detectance. Analysis of pedigrees, including trios, is supported. Filtering against variant databases and annotation of variants is also included. Finally, this package is not species specific and supports parallel computation.},
  articleno    = {poster abstract 9},
  author       = {Broeckx, Bart and Coopman, Frank and Verhoeven, Geert and Deforce, Dieter and Van Nieuwerburgh, Filip},
  booktitle    = {The 8th international conference on advances in canine and feline genomics and inherited disease : conference proceedings and abstract booklet},
  language     = {eng},
  location     = {Cambridge, UK},
  pages        = {poster abstract 9:79--poster abstract 9:79},
  title        = {Heuristic filtering of sequencing variants with the R-package {\textacutedbl}Mendelian{\textacutedbl}},
  url          = {http://www.caninefelinegenomicsconference.org/wp-content/uploads/2014/11/AHTConference2015.pdf},
  year         = {2015},
}