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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
Genomic data is increasingly collected by a wide array of organizations. As such, there is a growing demand to make summary information about such collections available more widely. However, over the past deca...
BMC Medical Genomics 2017 10(Suppl 2):39
Published on: 26 July 2017
This article is part of a Supplement: Volume 10 Supplement 2
Research
Cloud computing is becoming the preferred solution for efficiently dealing with the increasing amount of genomic data. Yet, outsourcing storage and processing sensitive information, such as genomic data, comes...
BMC Medical Genomics 2017 10(Suppl 2):46
Published on: 26 July 2017
This article is part of a Supplement: Volume 10 Supplement 2
Research
Whole genome sequencing has become fast, accurate, and cheap, paving the way towards the large-scale collection and processing of human genome data. Unfortunately, this dawning genome era does not only promise...
BMC Medical Genomics 2017 10(Suppl 2):44
Published on: 26 July 2017
This article is part of a Supplement: Volume 10 Supplement 2
Research
One of the tasks in the iDASH Secure Genome Analysis Competition in 2016 was to demonstrate the feasibility of privacy-preserving queries on homomorphically encrypted genomic data. More precisely, given a list...
BMC Medical Genomics 2017 10(Suppl 2):45
Published on: 26 July 2017
This article is part of a Supplement: Volume 10 Supplement 2
Research
As genome sequencing technology develops rapidly, there has lately been an increasing need to keep genomic data secure even when stored in the cloud and still used for research. We are interested in designing ...
BMC Medical Genomics 2017 10(Suppl 2):42
Published on: 26 July 2017
This article is part of a Supplement: Volume 10 Supplement 2
Research
With the enormous need for federated eco-system for holding global genomic and clinical data, Global Alliance for Genomic and Health (GA4GH) has created an international website called beacon service which all...
BMC Medical Genomics 2017 10(Suppl 2):43
Published on: 26 July 2017
This article is part of a Supplement: Volume 10 Supplement 2
Research
Edit distance is a well established metric to quantify how dissimilar two strings are by counting the minimum number of operations required to transform one string into the other. It is utilized in the domain ...
BMC Medical Genomics 2017 10(Suppl 2):41
Published on: 26 July 2017
This article is part of a Supplement: Volume 10 Supplement 2
Research
Advances in DNA sequencing technologies have prompted a wide range of genomic applications to improve healthcare and facilitate biomedical research. However, privacy and security concerns have emerged as a cha...
BMC Medical Genomics 2017 10(Suppl 2):48
Published on: 26 July 2017
This article is part of a Supplement: Volume 10 Supplement 2
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
Research article
Rapid advances in scientific research have led to an increase in public awareness of genetic testing and pharmacogenetics. Direct-to-consumer (DTC) genetic testing companies, such as 23andMe, allow consumers t...
BMC Medical Genomics 2017 10:47
Published on: 19 June 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
Research article
Reliable exon recognition is key to the splicing of pre-mRNAs into mature mRNAs. TDP-43 is an RNA-binding protein whose nuclear loss and cytoplasmic aggregation are a hallmark pathology in amyotrophic lateral ...
BMC Medical Genomics 2017 10:38
Published on: 26 May 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
Aspirin Exacerbated Respiratory Disease (AERD) is a chronic medical condition that encompasses asthma, nasal polyposis, and hypersensitivity to aspirin and other non-steroidal anti-inflammatory drugs. Several ...
BMC Medical Genomics 2017 10(Suppl 1):31
Published on: 24 May 2017
This article is part of a Supplement: Volume 10 Supplement 1
Research
Breast cancer is a complex disease in which different genomic patterns exists depending on different subtypes. Recent researches present that multiple subtypes of breast cancer occur at different rates, and pl...
BMC Medical Genomics 2017 10(Suppl 1):28
Published on: 24 May 2017
This article is part of a Supplement: Volume 10 Supplement 1
Research
Transcriptome analytic tools are commonly used across patient cohorts to develop drugs and predict clinical outcomes. However, as precision medicine pursues more accurate and individualized treatment decisions...
BMC Medical Genomics 2017 10(Suppl 1):27
Published on: 24 May 2017
This article is part of a Supplement: Volume 10 Supplement 1
Research
One of the fundamental challenges in cancer is to detect the regulators of gene expression changes during cancer progression. Through transcriptional silencing of critical cancer-related genes, epigenetic chan...
BMC Medical Genomics 2017 10(Suppl 1):30
Published on: 24 May 2017
This article is part of a Supplement: Volume 10 Supplement 1
Research
Many genetic diseases are caused by mutations in non-coding regions of the genome. These mutations are frequently found in enhancer sequences, causing disruption to the regulatory program of the cell. Enhancer...
BMC Medical Genomics 2017 10(Suppl 1):34
Published on: 24 May 2017
This article is part of a Supplement: Volume 10 Supplement 1
Research
Complex diseases involve many genes, and these genes are often associated with several different illnesses. Disease similarity measurement can be based on shared genotype or phenotype. Quantifying relationship...
BMC Medical Genomics 2017 10(Suppl 1):26
Published on: 24 May 2017
This article is part of a Supplement: Volume 10 Supplement 1
Introduction
BMC Medical Genomics 2017 10(Suppl 1):32
Published on: 24 May 2017
This article is part of a Supplement: Volume 10 Supplement 1
Research
The APOE ε4 allele is the most significant common genetic risk factor for late-onset Alzheimer’s disease (LOAD). The region surrounding APOE on chromosome 19 has also shown consistent association with LOAD. Howev...
BMC Medical Genomics 2017 10(Suppl 1):29
Published on: 24 May 2017
This article is part of a Supplement: Volume 10 Supplement 1
Erratum
BMC Medical Genomics 2017 10:36
Published on: 23 May 2017
The original article was published in BMC Medical Genomics 2015 8:75
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
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
