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Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing
IntroductionThe implication of copy number variations in familial heart disease is known, although in-depth knowledge is lacking; hence, more studies...
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The Challenges of Introducing Massively Parallel Sequencing into the UK Forensic Market
The introduction of any new forensic science technique into the Criminal Justice System requires extensive validation and accreditation as well as...
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Massively parallel enrichment of low-frequency alleles enables duplex sequencing at low depth
Assaying for large numbers of low-frequency mutations requires sequencing at extremely high depth and accuracy. Increasing sequencing depth aids the...
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The Search for and Functional Analysis of Genetic Variants in microRNA-Binding Sites using Massively Parallel Reporter Assay
A large-scale search for the genetic variants with a bias in the representation of alleles in transcriptome data (AE SNPs) and the binding sites in...
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Rapid discovery of high-affinity antibodies via massively parallel sequencing, ribosome display and affinity screening
Developing therapeutic antibodies is laborious and costly. Here we report a method for antibody discovery that leverages the Illumina HiSeq platform...
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Towards less invasive molecular diagnostics for endometrial cancer: massively parallel sequencing of endometrial lavage specimens in women attending for an office hysteroscopy
AbstractWe aimed to detect endometrial cancer (EC)–associated mutations in endometrial lavage specimens collected in an office setting and to compare...
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Focus on your locus with a massively parallel reporter assay
A growing number of variants associated with risk for neurodevelopmental disorders have been identified by genome-wide association and whole genome...
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A single-cell massively parallel reporter assay detects cell-type-specific gene regulation
Massively parallel reporter gene assays are key tools in regulatory genomics but cannot be used to identify cell-type-specific regulatory elements...
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Screening for gene doping transgenes in horses via the use of massively parallel sequencing
Throughout the history of horse racing, doping techniques to suppress or enhance performance have expanded to match the technology available. The...
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Identification of 27 allele-specific regulatory variants in Parkinson’s disease using a massively parallel reporter assay
Genome wide association studies (GWAS) have identified a number of genomic loci that are associated with Parkinson’s disease (PD) risk. However, the...
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Comparison of tumor mutation burden of 300 various non-Hodgkin lymphomas using panel based massively parallel sequencing
BackgroundTumor mutation burden is an emerging biomarker for immunotherapy. Although several clinical trials for immunotherapy in lymphoma have been...
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Massively parallel identification of mRNA localization elements in primary cortical neurons
Cells adopt highly polarized shapes and form distinct subcellular compartments in many cases due to the localization of many mRNAs to specific areas,...
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Variability of 27 Autosomal STR Loci for the Population of the Republic of Belarus Based on the Mass Parallel Sequencing Data
AbstractThe variability of 27 autosomal STR loci of the ForenSeq DNA Signature Prep Kit (Illumina) commercial panel was studied using the technique...
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The First Autosomal STR Population Data of Kinh Ethinic Group in Vietnam by Using Massively Parallel Sequencing
AbstractApplications of massively parallel sequencing (MPS) in forensic genetics have allowed to exploit the true variation in core forensic STR...
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High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal...
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Functional interrogation of autoimmune disease genetics using CRISPR/Cas9 technologies and massively parallel reporter assays
Genetic studies, including genome-wide association studies, have identified many common variants that are associated with autoimmune diseases....
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Massively parallel techniques for cataloguing the regulome of the human brain
Complex brain disorders are highly heritable and arise from a complex polygenic risk architecture. Many disease-associated loci are found in...
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Multiple approaches for massively parallel sequencing of SARS-CoV-2 genomes directly from clinical samples
BackgroundCOVID-19 (coronavirus disease 2019) has caused a major epidemic worldwide; however, much is yet to be known about the epidemiology and...
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Genome Sequencing
In this chapter, you will learn how to read genomic DNA with Sanger method and Next-Generation Sequencing techniques. We will cover natural as well...
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Powering Toxicogenomic Studies by Applying Machine Learning to Genomic Sequencing and Variant Detection
Since the advent of massively parallel high-throughput sequencing, also known as next-generation sequencing (NGS), the cost of DNA sequencing has...
