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Primary research
Autosomal dominant polycystic kidney disease (ADPKD) causes progressive loss of renal function in adults as a consequence of the accumulation of cysts. ADPKD is the most common genetic cause of end-stage renal...
Human Genomics 2016 10:37
Published on: 21 November 2016
Primary research
Genome-wide profiling of rare tumors is crucial for improvement of diagnosis, treatment, and, consequently, achieving better outcomes. Desmoplastic small round cell tumor (DSRCT) is a rare type of sarcoma aris...
Human Genomics 2016 10:36
Published on: 18 November 2016
Primary research
Our understanding of the transcriptional potential of the genome and its functional consequences has undergone a significant change in the last decade. This has been largely contributed by the improvements in ...
Human Genomics 2016 10:35
Published on: 28 October 2016
Primary research
Celiac disease is a complex chronic immune-mediated disorder of the small intestine. Today, the pathobiology of the disease is unclear, perplexing differential diagnosis, patient stratification, and decision-m...
Human Genomics 2016 10:34
Published on: 24 October 2016
Primary research
Accurate annotation of protein functions is still a big challenge for understanding life in the post-genomic era. Many computational methods based on protein-protein interaction (PPI) networks have been propos...
Human Genomics 2016 10:33
Published on: 27 September 2016
Primary research
Fifty random genetically unstudied families (limb-girdle muscular dystrophy (LGMD)/myopathy) were screened with a gene panel incorporating 759 OMIM genes associated with neurological disorders. Average coverag...
Human Genomics 2016 10:32
Published on: 27 September 2016
Review
Copy number variants (CNVs) are important contributors to the human pathogenic genetic diversity as demonstrated by a number of cases reported in the literature. The high homology between repetitive elements m...
Human Genomics 2016 10:30
Published on: 23 September 2016
Letter to the Editor
The change in epigenetic signatures, in particular DNA methylation, has been proposed as risk markers for various age-related diseases. However, the course of variation in methylation levels with age, the diff...
Human Genomics 2016 10:31
Published on: 23 September 2016
Review
Acute kidney injury (AKI) is an important clinical issue that is associated with significant morbidity and mortality. Despite research advances over the past decades, the complex pathophysiology of AKI is not ...
Human Genomics 2016 10:29
Published on: 8 September 2016
Primary research
Periodontitis is the most common chronic inflammatory disease caused by complex interaction between the microbial biofilm and host immune responses. In the present study, high-throughput RNA sequencing was uti...
Human Genomics 2016 10:28
Published on: 17 August 2016
Primary research
The genetics of osteogenesis imperfecta (OI) have not been studied in a Vietnamese population before. We performed mutational analysis of the COL1A1 and COL1A2 genes in 91 unrelated OI patients of Vietnamese orig...
Human Genomics 2016 10:27
Published on: 12 August 2016
Research
Innumerable opportunities for new genomic research have been stimulated by advancement in high-throughput next-generation sequencing (NGS). However, the pitfall of NGS data abundance is the complication of dis...
Human Genomics 2016 10(Suppl 2):20
Published on: 25 July 2016
This article is part of a Supplement: Volume 10 Supplement 2
Research
Methylation changes are frequent in cancers, but understanding how hyper- and hypomethylated region changes coordinate, associate with genomic features, and affect gene expression is needed to better understan...
Human Genomics 2016 10(Suppl 2):18
Published on: 25 July 2016
This article is part of a Supplement: Volume 10 Supplement 2
Research
Protein complexes play an important role in biological processes. Recent developments in experiments have resulted in the publication of many high-quality, large-scale protein-protein interaction (PPI) dataset...
Human Genomics 2016 10(Suppl 2):17
Published on: 25 July 2016
This article is part of a Supplement: Volume 10 Supplement 2
Research
Snail is a typical transcription factor that could induce epithelial-mesenchymal transition (EMT) and cancer progression. There are some related reports about the clinical significance of snail protein express...
Human Genomics 2016 10(Suppl 2):22
Published on: 25 July 2016
This article is part of a Supplement: Volume 10 Supplement 2
Research
Green tea polyphenol epigallocatechin-3-gallate (EGCG) has been demonstrated to inhibit cancer in experimental studies through its antioxidant activity and modulations on cellular functions by binding specific...
Human Genomics 2016 10(Suppl 2):19
Published on: 25 July 2016
This article is part of a Supplement: Volume 10 Supplement 2
Research
Chronic inflammation has been widely considered to be the major risk factor of coronary heart disease (CHD). The goal of our study was to explore the possible association with CHD for inflammation-related sing...
Human Genomics 2016 10(Suppl 2):21
Published on: 25 July 2016
This article is part of a Supplement: Volume 10 Supplement 2
Primary research
The recent availability of whole-exome sequencing has opened new possibilities for the evaluation of individuals with genetically undiagnosed intellectual disability.
Human Genomics 2016 10:26
Published on: 16 July 2016
Letter to the Editor
Human Genomics 2016 10:25
Published on: 4 July 2016
Primary research
In order to optimally integrate the use of high-throughput sequencing (HTS) as a tool in clinical diagnostics of likely monogenic disorders, we have created a multidisciplinary “Genome Clinic Task Force” at th...
Human Genomics 2016 10:24
Published on: 28 June 2016
Review
Age-related macular degeneration (AMD) is an ocular neurodegenerative disorder and is the leading cause of legal blindness in Western societies, with a prevalence of up to 8 % over the age of 60, which continu...
Human Genomics 2016 10:23
Published on: 21 June 2016
Opinion article
Microhaplotypes are a new type of genetic marker in forensics and population genetics. A standardized nomenclature is desirable. A simple approach that does not require a central authority for approval is prop...
Human Genomics 2016 10:16
Published on: 17 June 2016
Primary research
After coronary stenting, the risk of developing restenosis is from 20 to 35 %. The aim of the present study is to investigate the association of genetic variation in candidate genes in patients diagnosed with ...
Human Genomics 2016 10:15
Published on: 8 June 2016
Primary research
Atherosclerosis is one of the common health threats all over the world. It is a complex heritable disease that affects arterial blood vessels. Chronic inflammatory response plays an important role in atherogen...
Human Genomics 2016 10:14
Published on: 2 June 2016
Meeting Abstracts
O1 The metabolomics approach to autism: identification of biomarkers for early detection of autism spectrum disorder
Human Genomics 2016 10(Suppl 1):12
Published on: 26 May 2016
This article is part of a Supplement: Volume 10 Supplement 1
