Genomic technologies: development and clinical application
Guest editor: Stephen Kingsmore
Genome Medicine is pleased to present a special issue on Genomic technologies: development and clinical application. It captures the recent advances in a broad range of genomic technologies with potential to aid in understanding, preventing, diagnosing and treating disease.
This collection of articles has not been sponsored and articles have undergone the journal’s standard peer-review process. The Guest editor declares no competing interests.
- REVIEW
Three-dimensional genome architecture and emerging technologies: looping in disease
Genome compaction is a universal feature of cells and has emerged as a global regulator of gene expression. Compaction is maintained by a multitude of architectural proteins, long non-coding RNAs (lncRNAs), an...Genome Medicine 2017 9:87Published on: 30 September 2017 - METHOD
Differential analysis between somatic mutation and germline variation profiles reveals cancer-related genes
A major aim of cancer genomics is to pinpoint which somatically mutated genes are involved in tumor initiation and progression. We introduce a new framework for uncovering cancer genes, differential mutation a...Genome Medicine 2017 9:79Published on: 25 August 2017 - REVIEW
A practical guide to single-cell RNA-sequencing for biomedical research and clinical applications
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 9:75Published on: 18 August 2017 - EDITORIALGenome Medicine 2017 9:71Published on: 31 July 2017
- RESEARCH
Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines
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 9:62Published on: 18 July 2017 - METHOD
Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing
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 9:65Published on: 18 July 2017 - SOFTWARE
ISOWN: accurate somatic mutation identification in the absence of normal tissue controls
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 9:59Published on: 29 June 2017 - REVIEW
Advances in the delivery of RNA therapeutics: from concept to clinical reality
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 9:60Published on: 27 June 2017 - OPINION
Computing patient data in the cloud: practical and legal considerations for genetics and genomics research in Europe and internationally
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 9:58Published on: 20 June 2017 - RESEARCH
Linked read sequencing resolves complex genomic rearrangements in gastric cancer metastases
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 9:57Published on: 19 June 2017 - COMMENT
Dissecting the human microbiome with single-cell genomics
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 9:56Published on: 14 June 2017 - SOFTWARE
brain-coX: investigating and visualising gene co-expression in seven human brain transcriptomic datasets
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 9:55Published on: 8 June 2017 - RESEARCH
Seed-effect modeling improves the consistency of genome-wide loss-of-function screens and identifies synthetic lethal vulnerabilities in cancer cells
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 9:51Published on: 1 June 2017
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