The Mouse Genomes Project: Multiple laboratory mouse reference genomes and their use in future genotype to phenotype studies

por ati ()
14 Sep 2015 - 17:00
Auditorio "Dr. Francisco Bolívar Zapata" del IBt
Thomas Keane
Wellcome Trust Sanger Institute

Over the past century, the mouse has become one of the premier model organisms for genetic research with mouse models available for many diseases on different genetic backgrounds. In 2002, the Institute and many others collaborated to produce the first draft of the C57BL/6J strain genome. This genome sequence has enabled genetic screening in mice to be performed on an unprecedented scale; it facilitated the task of creating a complete set of null alleles for all genes and it accelerated the discovery of mouse sequence diversity.

In 2011, we led the effort to completely sequence the genomes of 17 inbred laboratory mouse strains and identified approximately 56M unique SNPs, 8.8M indels, and 0.28M structural variants.

To fully understand the functional consequences of these genetic differences, the MRC and BBSRC are funding us to create assembled chromosome sequences and strain-specific gene annotation for 16 strains. The results of this work will enable scientists using non-C57BL/6J mouse strains in medical research to design experiments based on the genome sequence closest to the animals’ genetic background.

The genome browsers are facing an increasing challenge to present the genomic data from different strains of the same animal to the worldwide research community as larger groups of closely related strains or individuals are sequenced. We will be collaborating with the Ensembl and UCSC projects to use the assembled and annotated mouse strain genomes we are creating as a model for presenting this type of data.