July highlights from Genome Medicine: medical genome sequencing, gene-environment interaction, and more

The July issue of Genome Medicine includes two articles focusing on medical research for personalized cancer therapy. Firstly, a research article by John Carpten’s group used whole genome sequencing to analyze the somatic mutations and structural aberrations present in a tumor of the ampulla of Vater resected from a patient. This is a rare form of gastrointestinal cancer and often treated as distal common bile duct or pancreatic cancer. This study suggested a distinct molecular origin for tumors of the Ampulla of Vater, and also revealed potential therapeutic approaches.

Secondly, a comprehensive review by Alfonso Valencia and Manuel Hidalgo discusses the critical bioinformatic issues that need to be overcome for the rapid and effective analysis of genomic data. Improving aspects ranging from sequence analysis to predicting therapy outcome using animal models would help the identification of targets and treatment options.

On a related topic, Gholson Lyon and Kai Wang review clinical applications of exome and whole genome sequencing and propose some solutions; this article is free to access until the end of August.

A study from the team of Ross Prentice focused on the genotype-environment interactions in postmenopausal women with a family history of stroke. The researchers found two genomic regions, F13A1 (Coagulation Factor XIII Subunit A) and PCSK9 (Proprotein Convertase Subtilisin Kexin 9), to be linked to stroke risk in post-menopausal women undergoing hormone treatment. This study might have important implications for the clinical management of estrogen and progesterone therapy.

The Research highlight in this issue covers a recent article published in Nature Genetics that revealed that prenatal growth retardation IMAGe (intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies) syndrome is caused by missense mutations in the epigenetically regulated gene encoding cyclin-dependent kinase inhibitor 1C. Renuka Dias and Eamonn Maher emphasize how studies from rare genetic disorders can provide insights into growth regulation and discuss how imprinted genes are implicated in growth regulation in light of the parental conflict theory.

The issue also includes a Meeting report by Doug Speed and David Balding, covering the 4th International Conference on Quantitative Genetics, recently held in Edinburgh.

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