BioMed Central Blog

A new method for next-generation re-sequencing of mouse chromosomes

A team led by David Adams from The Wellcome Trust Sanger Institute and colleagues at the MRC Mammalian Genetics Unit and Case Western Reserve University demonstrate the application of next-generation sequencing to re-sequence whole mouse chromosomes for genetic studies in an article published today in Genome Biology.

Currently only a single mouse genome sequence is available – that of the mouse strain C57BL/6J. This sequence is rather different from the sequence of other mouse strains that are commonly used in genetic studies. In the Genome Biology article, assemblies of chromosome 17 from the A/J and CAST/Ei strains were constructed from high-throughput sequence data at a depth of at least 22X. AJ is a classical laboratory strain, which is closely related to the ‘reference’ C57BL/6J strain, while the CAST/Ei strain is highly divergent from the reference as it was derived from a wild isolate. The authors identified single nucleotide polymorphisms (SNPs) and structural variants in the chromosome 17 assemblies and also demonstrate how these sequences can be used to profile quantitative trait loci genes. New algorithms for identifying copy number variations (CNVs) and for SNP filtering, as well as an assembly algorithm are also presented.

The new approaches demonstrated here open the way for a new era of rodent functional genomics.

Read the article by Adams and colleagues in Genome Biology.

Posted by Emma Ralph at 15:49    Comments (0)

Women in clinical trials: A new commentary in BMC Medicine

In BMC Medicine this month, Jesse Berlin and Susan Ellenberg comment on the concerns, controversy and confounding issues surrounding the exclusion of women from clinical trials.

Traditionally, theoretical fears about gender differences in treatment effects and legitimate concerns of exposing fetuses to investigational drugs have surrounded the idea of involving women in clinical trials. Berlin and Ellenberg discuss how gender inequity in clinical research has been challenged, and highlight the broader issue of individual differences in biological factors, and genetic factors in particular, that may ultimately lead to a future of personalised medicine for everybody.

We look forward to hearing from our readers and authors about their thoughts on this polarising subject. For this and more why not sign up for article alerts from BMC Medicine?

Further, we hope that you will submit your high quality research to BMC Medicine. If you are unsure whether your research falls within our scope why not send us a pre-submission query.

Mick Aulakh

Assistant Editor, BMC Medicine

Posted by Mick Aulakh at 11:07    Comments (0)