Shadow Autozygosity MaPping by Linkage Exclusion

SAMPLE showing regions on Chromosome 8

SAMPLE is a method for identifying linkage to lethal recessive genes in pedigrees where it is impossible to obtain DNA samples from affected individuals. Linkage information is extracted from genotypes of unaffected family members.

A detailed description of SAMPLE with examples of its application has been published here:

Carr IM, Szymanska K, Sheridan E, Markham AF, Bonthron DT, Johnson CA (2009). Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders. Hum Mutat 30: 1642-1649.

Feature guide

A “walk-through” explanation, with screenshots, of SAMPLE usage:

HTML guide


The download page currently offers a preview version of the SAMPLE program and some sample data files, used in the examples shown in the online Guide.

The SAMPLE program has been written by Ian Carr. It is still undergoing testing, and any feedback on its features or performance would be very welcome.