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First Indonesian report of WGS-based MTBC L3 discovery
ObjectiveRecent spoligotyping results in the island nation of Indonesia had revealed the existence of Mycobacterium tuberculosis complex lineage 3...
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Prediction of methylation status using WGS data of plasma cfDNA for multi-cancer early detection (MCED)
BackgroundCell-free DNA (cfDNA) contains a large amount of molecular information that can be used for multi-cancer early detection (MCED), including...
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Test development, optimization and validation of a WGS pipeline for genetic disorders
BackgroundWith advances in massive parallel sequencing (MPS) technology, whole-genome sequencing (WGS) has gradually evolved into the first-tier...
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Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS
BackgroundGene fusions are important cancer drivers in pediatric cancer and their accurate detection is essential for diagnosis and treatment....
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Shallow WGS of individual CTCs identifies actionable targets for informing treatment decisions in metastatic breast cancer
BackgroundWe report copy-number profiling by low-pass WGS (LP-WGS) in individual circulating tumour cells (CTCs) for guiding treatment in patients...
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A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies
To enhance the use of Whole Genome Sequencing (WGS) in clinical practice, it is still necessary to standardize data analysis pipelines. Herein, we...
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Epidemiological Typing Using WGS
Typing methods are continuously developing and improving. The methods aim to discriminate different strains beyond the species identification level....
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Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders
BackgroundDue to its reduced cost and incomparable advantages, WGS is likely to lead to changes in clinical diagnosis of rare and undiagnosed...
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WGS for Bacterial Identification and Susceptibility Testing in the Clinical Lab
Two decades after the first bacterial genome sequencing by Fleischmann et al. in 1995, bacterial genomics gained an important role both in the...
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Introduction and spread of vancomycin-resistant Enterococcus faecium (VREfm) at a German tertiary care medical center from 2004 until 2010: a retrospective whole-genome sequencing (WGS) study of the molecular epidemiology of VREfm
BackgroundIn most of Europe and especially in Germany, there is currently a concerning rise in the number of hospital-acquired infections due to...
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Benefits for children with suspected cancer from routine whole-genome sequencing
Clinical whole-genome sequencing (WGS) has been shown to deliver potential benefits to children with cancer and to alter treatment in high-risk...
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Whole genome sequencing in clinical practice
Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic diagnosis of rare and unknown diseases and for identification of...
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Comparative analysis of somatic variant calling on matched FF and FFPE WGS samples
BackgroundResearch grade Fresh Frozen (FF) DNA material is not yet routinely collected in clinical practice. Many hospitals, however, collect and...
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A genotyping array for the globally invasive vector mosquito, Aedes albopictus
BackgroundAlthough whole-genome sequencing (WGS) is the preferred genotyping method for most genomic analyses, limitations are often experienced when...
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Introduction and impact of routine whole genome sequencing in the diagnosis and management of sarcoma
BackgroundSarcomas are diverse neoplasms with highly variable histological appearances in which diagnosis is often challenging and management options...
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Ultrasensitive plasma-based monitoring of tumor burden using machine-learning-guided signal enrichment
In solid tumor oncology, circulating tumor DNA (ctDNA) is poised to transform care through accurate assessment of minimal residual disease (MRD) and...
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A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome
Whole genome sequencing (WGS) at high-depth (30X) allows the accurate discovery of variants in the coding and non-coding DNA regions and helps...
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Views of children and young adults about Whole Genome Sequencing in newborn screening: a qualitative study
Whole Genome Sequencing (WGS) in newborn screening is ethically complex. Parents will provide proxy consent for initial participation and...
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Whole-Genome Sequencing-Based Confirmatory Methods on RT-qPCR Results for the Detection of Foodborne Viruses in Frozen Berries
Accurate detection, identification, and subsequent confirmation of pathogens causing foodborne illness are essential for the prevention and...
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Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots
Universal newborn screening (NBS) is a highly successful public health intervention. Archived dried bloodspots (DBS) collected for NBS represent a...
