March highlights of Genome Medicine: epigenetics, classifying cancers, next-generation sequencing and more

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The MarchissueofGenome Medicinehas a range of exciting articles across our broadscope.

Researchfrom Andrew Teschendorff and colleagues demonstrates that epigenetic variation in normal cells collected before the onset of disease is predictive of future cervical cancer risk. Their findings could provide the basis for an innovative clinical test that can diagnose cancer years in advance of any signs or symptoms. A more detailed summary of the study can be read in thisblog. Further highlighting the promise of epigenetic variation for diagnosing cancer, Moshe Szyf provides a comprehensivereviewof approaches for classifying breast cancer subtypes using DNA methylation signatures.

New and improved methods for classifying and differentiating cancer subgroups are important for translating cancer biomarker discovery into clinical practice. In anotherresearch articleGunes Gundem和Nuria Lopez-Bigas发表了本月,描述了一种计算方法,用于分析特定于不同肿瘤类型的转录组变化,并根据独特的基因表达谱定义临床相关的患者亚组。通过应用其方法,样品水平富集分析(SLEA),对基因表达数据集,作者在多种癌症类型中检测到共同的应激表型和与乳腺癌预后较差有关的染色体不稳定性基因签名。

一个新的计算methodwith a different purpose is also reported in this issue. This method, Haplous, which was developed by Sampsa Hautaniemi’s group, involves a rule-based approach for identifying rare identical-by-descent haplotypes from genome-wide data. Using Haplous, the authors identify haplotypes with potential disease-causing variants in familial lymphoma data, to which linkage analysis could not be applied.

三个研究Highlights were published in March, including Si Houn Hahn’sdiscussionof targeted next-generation sequencing (NGS) approaches for diagnosing mitochondrial disease. Hahn emphasizes that the genetic heterogeneity of mitochondrial disorders is much broader than previously thought, so NGS could be a useful clinical tool for screening the most relevant candidate genes. The article has been highly accessed, highlighting the ongoing interest in sequencing-based approaches for diagnosing and understanding disease.

Capturing the excitement about recent advances in the interconnected fields of systems biology and genomics, Barbara Stranger and colleaguesreporton the Keystone Symposium‘Complex Traits: Genomics and Computational approaches’. One of the topics discussed at this meeting was strategies for drug repositioning, and inthis article, Yvonne Li and Steven Jones review the current approaches for repositioning drugs and the challenges that remain.

Finally, Stephen Kingsmore and colleaguesreflecton the potential impact of next-generation sequencing and bioinformatic approaches on community genetics programs in low- and middle-income countries.

Look out for the April issue ofGenome Medicine, which is a special issue focusing on Disease Metabolomics, and will feature articles from leading researchers in this field.

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