The unmasking of recessive mutations by virtue of biparental inheritance of the same
ancestral haplotype on which they reside (autozygosity) has provided human geneticists …

Autozygosity, or the inheritance of two copies of an ancestral allele, has the potential to not
only reveal phenotypes caused by biallelic mutations in autosomal recessive genes, but to …

Autozygosity mapping of recessive genes can be performed on a small number of affected
individuals from consanguineous pedigrees. With the advent of microarray SNP analysis …

Rare, atypical, and undiagnosed autosomal‐recessive disorders frequently occur in the
offspring of consanguineous couples. Current routine diagnostic genetic tests fail to …

Autozygosity mapping of recessive disorders using small numbers of highly inbred families
is a powerful tool for disease gene identification. With the advent of cheap rapid methods for …

Many genetic disorders demonstrate mutations that can be traced to a founder, sometimes a
person who can be identified. These founder mutations have generated considerable …

De novo mutations are recognized both as an important source of genetic variation and as a
prominent cause of sporadic disease in humans. Mutations identified as de novo are …

Autozygosity mapping is a powerful method for the identification of recessively inherited
disease genes using small inbred families. Typically, microarray SNP genotype data are first …

Discovery of most autosomal recessive disease-associated genes has involved analysis of
large, often consanguineous multiplex families or small cohorts of unrelated individuals with …

For almost 15 years, genome research has focused on the search for major risk factors in
common diseases, with disappointing results. Only recently, whole-genome association …