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Research article
Both ambulatory atrial fibrillation (AF) and post-operative AF (poAF) are associated with substantial morbidity and mortality. Analyzing the tissue-specific gene expression in the left atrium (LA) can identify...
BMC Medical Genomics 2017 10:25
Published on: 2 May 2017
Research article
The impacts of direct-to-consumer personal genomic testing (PGT) on health behaviors such as diet and exercise are poorly understood. Our investigation aimed to evaluate diet and exercise changes following PGT...
BMC Medical Genomics 2017 10:24
Published on: 2 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
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
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
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
Mechanisms that inactivate the p53 pathway in Acute Myeloid Leukemia (AML), other than rare mutations, are still not well understood.
BMC Medical Genomics 2017 10:18
Published on: 24 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 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
De novo inference of clinically relevant gene function relationships from tumor RNA-seq remains a challenging task. Current methods typically either partition patient samples into a few subtypes or rely upon a...
BMC Medical Genomics 2017 10:12
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
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
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
Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a debilitating idiopathic disease characterized by unexplained fatigue that fails to resolve with sufficient rest. Diagnosis is based on a list of...
BMC Medical Genomics 2017 10:11
Published on: 23 February 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
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
Erratum
BMC Medical Genomics 2017 10:6
Published on: 12 January 2017
The original article was published in BMC Medical Genomics 2016 9:14
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
Research article
Primary biliary cholangitis (PBC) and primary sclerosing cholangitis (PSC) are forms of hepatic autoimmunity, and risk for both diseases has a strong genetic component. This study aimed to define the genetic a...
BMC Medical Genomics 2017 10:2
Published on: 6 January 2017
Erratum
BMC Medical Genomics 2017 10:1
Published on: 5 January 2017
The original article was published in BMC Medical Genomics 2014 7:486
