Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes

Genome Biol. 2011 Sep 14;12(9):R85. doi: 10.1186/gb-2011-12-9-r85.


Many exome sequencing studies of Mendelian disorders fail to optimally exploit family information. Classical genetic linkage analysis is an effective method for eliminating a large fraction of the candidate causal variants discovered, even in small families that lack a unique linkage peak. We demonstrate that accurate genetic linkage mapping can be performed using SNP genotypes extracted from exome data, removing the need for separate array-based genotyping. We provide software to facilitate such analyses.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosomes, Human / genetics
  • Exome*
  • Gene Frequency
  • Genetic Diseases, Inborn / genetics*
  • Genetic Linkage*
  • Genome, Human
  • Genotype*
  • Genotyping Techniques
  • HapMap Project
  • Humans
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Sequence Alignment
  • Sequence Analysis, DNA
  • Software*