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Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing
Cardiac channelopathies are a group of heritable disorders that affect the heart’s electrical activity due to genetic variations present in genes...
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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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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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Construction of high coverage whole-genome sequencing libraries from single colon crypts without DNA extraction or whole-genome amplification
ObjectiveComprehensive and reliable genome-wide variant analysis of a small number of cells has been challenging due to genome coverage bias, PCR...
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Targeted Whole Genome Sequencing of the Capripoxvirus Genome from Clinical Tissue Samples and Lyophilized Vaccine Batches
Diseases caused by Capripoxviruses (CaPVs) are of great economic importance in sheep, goats, and cattle. Since CaPV strains are serologically...
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Novel ITPA variants identified by whole genome sequencing and RNA sequencing
Approximately 80% of rare diseases have a genetic cause, and an accurate genetic diagnosis is necessary for disease management, prognosis prediction,...
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Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing
Megabase-scale mosaic chromosomal alterations (mCAs) in blood are prognostic markers for a host of human diseases. Here, to gain a better...
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Data of whole-genome sequencing of Karakul, Zel, and Kermani sheep breeds
ObjectiveThe data provided herein represent the whole-genome sequencing data associated with three sheep breeds of Iranian native breeds. Sheep are...
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Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank
Phasing involves distinguishing the two parentally inherited copies of each chromosome into haplotypes. Here, we introduce SHAPEIT5, a new phasing...
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Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing
BackgroundFacioscapulohumeral muscular dystrophy (FSHD) is a high-prevalence autosomal dominant neuromuscular disease characterized by significant...
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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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Germline whole genome sequencing in adults with multiple primary tumors
Multiple primary tumors (MPTs) are a harbinger of hereditary cancer syndromes. Affected individuals often fit genetic testing criteria for a number...
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Comparative Analysis of Structural Variant Callers on Short-Read Whole-Genome Sequencing Data
AbstractThree structural variant callers (Manta, Smoove, Delly) are analyzed on whole-genome sequencing data using four different alignment...
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Preliminary Study of Whole-Genome Bisulfite Sequencing and Transcriptome Sequencing in VHL Disease-Associated ccRCC
BackgroundVon Hippel–Lindau (VHL) disease is an autosomal dominant hereditary tumor syndrome with an incidence of approximately 1/36,000. VHL...
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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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MinION Whole-Genome Sequencing in Resource-Limited Settings: Challenges and Opportunities
Purpose of ReviewThe introduction of MinION whole-genome sequencing technology greatly increased and simplified complete genome sequencing in various...
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Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants
Inherited retinal diseases (IRDs) are a group of common primary retinal degenerative disorders. Conventional genetic testing strategies, such as...
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Contrasting whole-genome and reduced representation sequencing for population demographic and adaptive inference: an alpine mammal case study
Genomes capture the adaptive and demographic history of a species, but the choice of sequencing strategy and sample size can impact such inferences....
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Copy Number Variation and Allele Ratio Analysis in Candida albicans Using Whole Genome Sequencing Data
Whole genome sequencing of human fungal pathogens has revolutionized the speed and accuracy in which sequence variants that cause antifungal...