Advertisement
Review
RNA sequencing (RNA-seq) is a genomic approach for the detection and quantitative analysis of messenger RNA molecules in a biological sample and is useful for studying cellular responses. RNA-seq has fueled mu...
Genome Medicine 2017 9:75
Published on: 18 August 2017
Comment
Genome Medicine 2017 9:74
Published on: 17 August 2017
Research
De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. We aimed to ...
Genome Medicine 2017 9:73
Published on: 14 August 2017
Editorial
Genome Medicine 2017 9:71
Published on: 31 July 2017
Research
Psychiatric disorders are multigenic diseases with complex etiology that contribute significantly to human morbidity and mortality. Although clinically distinct, several disorders share many symptoms, suggesti...
Genome Medicine 2017 9:72
Published on: 28 July 2017
Research
Residents of long-term care facilities (LTCF) may have high carriage rates of multidrug-resistant pathogens, but are not currently included in surveillance programmes for antimicrobial resistance or healthcare...
Genome Medicine 2017 9:70
Published on: 25 July 2017
Research Highlight
Next-generation sequencing is increasingly being used to monitor current and historic events related to the emergence and spread of antimicrobial resistance. In a recent publication, researchers analyzed the r...
Genome Medicine 2017 9:68
Published on: 25 July 2017
Comment
Recent studies have identified links between host genetic variants and microbial recognition of the microbiome. Defects in host–microbiome interactions in individuals harboring inflammatory bowel disease risk ...
Genome Medicine 2017 9:69
Published on: 24 July 2017
Research
Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders.
Genome Medicine 2017 9:67
Published on: 19 July 2017
Research
Onco-proteogenomics aims to understand how changes in a cancer’s genome influences its proteome. One challenge in integrating these molecular data is the identification of aberrant protein products from mass-s...
Genome Medicine 2017 9:62
Published on: 18 July 2017
Method
Microsatellite expansion, such as trinucleotide repeat expansion (TRE), is known to cause a number of genetic diseases. Sanger sequencing and next-generation short-read sequencing are unable to interrogate TRE...
Genome Medicine 2017 9:65
Published on: 18 July 2017
Comment
Intestinal epithelium is structured by two distinct components: the villi and the crypts. The crypts harbor stem cells expressing Lgr5 and thus have been a representative model to study tissue stem cell functi...
Genome Medicine 2017 9:66
Published on: 18 July 2017
Research
Disagreements over genetic signatures associated with disease have been particularly prominent in the field of psychiatric genetics, creating a sharp divide between disease burdens attributed to common and rar...
Genome Medicine 2017 9:64
Published on: 7 July 2017
Research
Genome-wide association studies (GWAS) have identified more than 100 genetic loci associated with type 2 diabetes (T2D). However, the underlying biological mechanisms for many of these associations remain unkn...
Genome Medicine 2017 9:63
Published on: 6 July 2017
Software
A key step in cancer genome analysis is the identification of somatic mutations in the tumor. This is typically done by comparing the genome of the tumor to the reference genome sequence derived from a normal ...
Genome Medicine 2017 9:59
Published on: 29 June 2017
Erratum
Genome Medicine 2017 9:61
Published on: 29 June 2017
The original article was published in Genome Medicine 2017 9:39
Review
The rapid expansion of the available genomic data continues to greatly impact biomedical science and medicine. Fulfilling the clinical potential of genetic discoveries requires the development of therapeutics ...
Genome Medicine 2017 9:60
Published on: 27 June 2017
Opinion
Biomedical research is becoming increasingly large-scale and international. Cloud computing enables the comprehensive integration of genomic and clinical data, and the global sharing and collaborative processi...
Genome Medicine 2017 9:58
Published on: 20 June 2017
Research
Genome rearrangements are critical oncogenic driver events in many malignancies. However, the identification and resolution of the structure of cancer genomic rearrangements remain challenging even with whole ...
Genome Medicine 2017 9:57
Published on: 19 June 2017
Comment
Recent advances in genome sequencing of single microbial cells enable the assignment of functional roles to members of the human microbiome that cannot currently be cultured. This approach can reveal the genom...
Genome Medicine 2017 9:56
Published on: 14 June 2017
Software
The pathogenesis of neurological and mental health disorders often involves multiple genes, complex interactions, as well as brain- and development-specific biological mechanisms. These characteristics make id...
Genome Medicine 2017 9:55
Published on: 8 June 2017
Research
It is frequently assumed that pre-invasive lesions are simpler precursors of cancer and will contain a limited subset of the genomic changes seen in their associated invasive disease. Driver mutations are thou...
Genome Medicine 2017 9:53
Published on: 7 June 2017
Research
Profiles of DNA methylation of many tissues relevant in human disease have been obtained from microarrays and are publicly available. These can be used to generate maps of chromatin compartmentalization, demar...
Genome Medicine 2017 9:54
Published on: 7 June 2017
Erratum
Genome Medicine 2017 9:52
Published on: 6 June 2017
The original article was published in Genome Medicine 2017 9:42
Research
Genome-wide loss-of-function profiling is widely used for systematic identification of genetic dependencies in cancer cells; however, the poor reproducibility of RNA interference (RNAi) screens has been a majo...
Genome Medicine 2017 9:51
Published on: 1 June 2017
