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Section edited by Youping Deng
This section considers studies on the development and application of novel computational and statistical methods to the analysis of genomic data for the study of health and disease.
Research article
Preeclampsia is a multifactorial disease with unknown pathogenesis. Even when recent studies explored this disease using several bioinformatics tools, the main objective was not directed to pathogenesis. Addit...
BMC Medical Genomics 2017 10:50
Published on: 8 August 2017
Research article
Lung cancer is a leading cause of cancer-related death worldwide and is the most commonly diagnosed cancer. Like other cancers, it is a complex and highly heterogeneous disease involving multiple signaling pat...
BMC Medical Genomics 2017 10:40
Published on: 7 June 2017
Software
An increasing number of precision oncology programmes are being launched world-wide. To support this development, we present the Cancer Variant Explorer (CVE), an R package with an interactive Shiny web browse...
BMC Medical Genomics 2017 10:37
Published on: 25 May 2017
Research article
To realize potential public health benefits from genetic and genomic innovations, understanding how best to implement the innovations into clinical care is important. The objective of this study was to synthes...
BMC Medical Genomics 2017 10:35
Published on: 22 May 2017
Research article
Colon cancer, one of the most common causes of cancer-related deaths, arises from adenomatous polyps. In these years, circulating microRNAs (miRNAs) have attracted increasing attention as novel biomarkers for ...
BMC Medical Genomics 2017 10:23
Published on: 20 April 2017
Research article
Patient stratification to identify subtypes with different disease manifestations, severity, and expected survival time is a critical task in cancer diagnosis and treatment. While stratification approaches usi...
BMC Medical Genomics 2017 10:20
Published on: 31 March 2017
Research Article
The distinct types of hematological malignancies have different biological mechanisms and prognoses. For instance, myelodysplastic syndrome (MDS) is generally indolent and low risk; however, it may transform i...
BMC Medical Genomics 2017 10:16
Published on: 16 March 2017
Research article
Copy number alterations (CNA) and loss of heterozygosity (LOH) represent a large proportion of genetic structural variations of cancer genomes. These aberrations are continuously accumulated during the procedu...
BMC Medical Genomics 2017 10:15
Published on: 15 March 2017
Research article
Epithelial to mesenchymal transition, and mimicking processes, contribute to cancer invasion and metastasis, and are known to be responsible for resistance to various therapeutic agents in many cancers. While ...
BMC Medical Genomics 2017 10:13
Published on: 9 March 2017
Research article
Human Phenotype Ontology (HPO) has risen as a useful tool for precision medicine by providing a standardized vocabulary of phenotypic abnormalities to describe presentations of human pathologies; however, ther...
BMC Medical Genomics 2017 10:10
Published on: 23 February 2017
Research article
Type 1 diabetes (T1D) is an autoimmune disease and extensive evidence has indicated a critical role of both the innate and the adaptive arms of immune system in disease development. To date most clinical trial...
BMC Medical Genomics 2017 10:7
Published on: 31 January 2017
Research article
Clonal expansion of leukemic cells leads to onset of adult T-cell leukemia (ATL), an aggressive lymphoid malignancy with a very poor prognosis. Infection with human T-cell leukemia virus type-1 (HTLV-1) is the...
BMC Medical Genomics 2017 10:4
Published on: 31 January 2017
Research article
Systemic Lupus Erythematosus (SLE) is a complex, multi-systemic, autoimmune disease for which the underlying aetiological mechanisms are poorly understood. The genetic and molecular processes underlying lupus ...
BMC Medical Genomics 2016 9:66
Published on: 15 November 2016
Research article
The rapid adoption of next-generation sequencing provides an efficient system for detecting somatic alterations in neoplasms. The detection of such alterations requires a matched non-neoplastic sample for adeq...
BMC Medical Genomics 2016 9:64
Published on: 19 October 2016
Technical advance
The outsourcing of genomic data into public cloud computing settings raises concerns over privacy and security. Significant advancements in secure computation methods have emerged over the past several years, ...
BMC Medical Genomics 2016 9:63
Published on: 13 October 2016
Research article
Noninvasive prenatal testing (NIPT) using massively parallel sequencing of cell-free DNA (cfDNA) is increasingly being used to predict fetal chromosomal abnormalities. However, concerns over erroneous predicti...
BMC Medical Genomics 2016 9:61
Published on: 3 October 2016
Debate
Exome sequencing has advanced to clinical practice and proven useful for obtaining molecular diagnoses in rare diseases. In approximately 75 % of cases, however, a clinical exome study does not produce a defin...
BMC Medical Genomics 2016 9:56
Published on: 27 August 2016
Research Article
Detection of disease-associated markers plays a crucial role in gene screening for biological studies. Two-sample test statistics, such as the t-statistic, are widely used to rank genes based on gene expression d...
BMC Medical Genomics 2016 9:53
Published on: 18 August 2016
Research Article
Identification of prognostic gene expression markers from clinical cohorts might help to better understand disease etiology. A set of potentially important markers can be automatically selected when linking ge...
BMC Medical Genomics 2016 9:43
Published on: 20 July 2016
Research article
Accurate discovery of molecular biomarkers that are prognostic of a clinical outcome is an important yet challenging task, partly due to the combination of the typically weak genomic signal for a clinical outc...
BMC Medical Genomics 2016 9:27
Published on: 10 June 2016
