Director’s 2001 paper selected as a ‘classic’

A paper from 2001 by Centre Director Peter Donnelly has been selected by the American Journal of Human Genetics as one of 10 classic papers published in the 65 years of its history. A special issue containing these papers was distributed at the recent American Society for Human Genetics meeting in San Diego.

Issued for the first time in September 1949, the AJHG has published key papers in the subject including Mary Lyon’s hypothesis of X-chromosome inactivation, the proposal by David Botstein and co-authors to use restriction fragment length polymorphisms to generate linkage maps, and the discovery by Allen Roses and colleagues of a chromosome 19 locus (later shown to be in the APOE gene) linked to Alzheimer’s disease.

Included among these highlights is the paper ‘A new statistical method for haplotype reconstruction from population data’ by Matthew Stephens, Nicholas Smith and Peter Donnelly, published in volume 68 of the journal in 2001. An editorial in the anniversary issue says that the ‘statistical approach to haplotype estimation provided a major improvement over previous methods and paved the way for current approaches for imputing alleles from genotyping data’.

Peter says he was ‘pleasantly surprised, and more than a little awestruck’ that his paper was selected out of more than 10,000 published since 1949.

Donnelly 2001 paper