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This section considers studies on the use of genomic markers to diagnose, classify, or predict the risk or prognosis of human disease.
Case report
Intratumor heterogeneity (ITH) poses an urgent challenge for cancer precision medicine because it can cause drug resistance against cancer target therapy and immunotherapy. The search for trunk mutations that ...
BMC Medical Genomics 2017 10:49
Published on: 17 July 2017
Technical advance
The growing number of Next Generation Sequencing (NGS) tests is transforming the routine clinical diagnosis of hereditary cancers. Identifying whether a cancer is the result of an underlying disease-causing mu...
BMC Medical Genomics 2017 10:33
Published on: 19 May 2017
Research article
Biliary Atresia (BA) is rare and genetically complex, and the pathogenesis is elusive. The disease course is variable and can represent heterogeneity, which hinders effective disease management. Deciphering th...
BMC Medical Genomics 2017 10:22
Published on: 17 April 2017
Research article
Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene, which codes for the dystrophin protein. While progress has been made in defining the molecular basis and pathogenesis of DMD, major gaps r...
BMC Medical Genomics 2017 10:21
Published on: 8 April 2017
Research Article
Basal-like constitutes an important molecular subtype of breast cancer characterised by an aggressive behaviour and a limited therapy response. The outcome of patients within this subtype is, however, divergen...
BMC Medical Genomics 2017 10:19
Published on: 28 March 2017
Research article
The importance of accurate and affordable mutation calling in fixed pathology samples is becoming increasingly important as we move into the era of personalised medicine. The Affymetrix OncoScan® Array platfor...
BMC Medical Genomics 2017 10:17
Published on: 18 March 2017
Research article
The PALB2 gene encodes a protein that plays a crucial role in maintaining genomic integrity. Germline inactivating mutations in PALB2 are associated with an increased risk of breast and ovarian cancer. The preval...
BMC Medical Genomics 2017 10:14
Published on: 9 March 2017
Research article
The use of genome-wide (whole genome or exome) sequencing for population-based newborn screening presents an opportunity to detect and treat or prevent many more serious early-onset health conditions than is p...
BMC Medical Genomics 2017 10:9
Published on: 21 February 2017
Research article
Familial breast cancer (BC) represents 5 to 10% of all BC cases. Mutations in two high susceptibility BRCA1 and BRCA2 genes explain 16–40% of familial BC, while other high, moderate and low susceptibility genes e...
BMC Medical Genomics 2017 10:8
Published on: 15 February 2017
Case report
Microcephaly has become a major public health problem in Brazil. The total number of newborns with microcephaly was reported to be >4000 in June 2016. Studies suggest that Zika Virus is a major cause of new mi...
BMC Medical Genomics 2017 10:5
Published on: 11 January 2017
Debate
It is becoming increasingly difficult to keep information about genetic ancestry separate from information about health, and consumers of genetic ancestry tests are becoming more aware of the potential health ...
BMC Medical Genomics 2017 10:3
Published on: 9 January 2017
Technical advance
The KRAS gene is mutated in about 40 % of colorectal cancer (CRC) cases, which has been clinically validated as a predictive mutational marker of intrinsic resistance to anti-EGFR inhibitor (EGFRi) therapy. Since...
BMC Medical Genomics 2016 9:65
Published on: 19 October 2016
Correspondence
The increasing use of next generation DNA sequencing in clinical medicine is exposing the need for more genetics education in physician training. We piloted an initiative to determine the feasibility of incorp...
BMC Medical Genomics 2016 9:62
Published on: 6 October 2016
Research article
Histopathological assessment has a low potential to predict clinical outcome in patients with the same stage of colorectal cancer. More specific and sensitive biomarkers to determine patients’ survival are nee...
BMC Medical Genomics 2016 9:58
Published on: 8 September 2016
Debate
Genomic testing has reached the point where, technically at least, it can be cheaper to undertake panel-, exome- or whole genome testing than it is to sequence a single gene. An attribute of these approaches i...
BMC Medical Genomics 2016 9:57
Published on: 1 September 2016
Research article
The difficulties in using formalin-fixed and paraffin-embedded (FFPE) tumour specimens for molecular marker studies have hampered progress in translational cancer research. The cDNA-mediated, annealing, select...
BMC Medical Genomics 2016 9:54
Published on: 20 August 2016
Research article
The diagnosis of acute appendicitis can be surprisingly difficult without computed tomography, which carries significant radiation exposure. Circulating blood cells may carry informative changes in their RNA e...
BMC Medical Genomics 2016 9:40
Published on: 15 July 2016
Research Article
At the molecular level breast cancer comprises a heterogeneous set of subtypes associated with clear differences in gene expression and clinical outcomes. Single sample predictors (SSPs) are built via a two-st...
BMC Medical Genomics 2016 9:26
Published on: 3 June 2016
The Erratum to this article has been published in BMC Medical Genomics 2016 9:39
Research article
Noninvasive prenatal testing (NIPT) to detect fetal aneuploidy using next-generation sequencing on ion semiconductor platforms has become common. There are several sequencers that can generate sufficient DNA r...
BMC Medical Genomics 2016 9:22
Published on: 30 April 2016
Research article
Essential hypertension is a significant risk factor for cardiovascular diseases. Emerging research suggests a role of DNA methylation in blood pressure physiology. We aimed to investigate epigenetic associatio...
BMC Medical Genomics 2016 9:20
Published on: 22 April 2016
