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2020 Short Course - Essential Fundamentals - Next ...
Next Generation Sequencing (NGS) - Definitions
Next Generation Sequencing (NGS) - Definitions
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Pdf Summary
Next Generation Sequencing (NGS) is a powerful tool used in genomic research. Several key definitions related to NGS are explained as follows:<br /><br />1. Alignment: Locating the genomic origin of sequence reads by comparing them to a reference genome.<br />2. Annotation: Providing biologically relevant information to a sequence or the attached biological information itself.<br />3. Assembly: Reconstructing a longer sequence from short sequences based on nucleotide similarity.<br />4. Barcode: Unique short artificial sequences attached to DNA molecules in a sequencing library; enables identification of different samples.<br />5. Base Call Quality Score: A score assigned to each base call in a sequence read to measure the confidence level.<br />6. Contig: A continuous segment of DNA or RNA sequence produced by overlapping sequence reads.<br />7. Coverage: The average number of times nucleotides in aligned sequence reads appear at different genomic positions.<br />8. Demultiplexing: Identifying and separating sequencing reads generated from different samples based on their unique barcode sequences.<br />9. Exome: The complete set of exons in an organism's genome.<br />10. Library: A pool of DNA or RNA fragments with universal adapters attached; used for massively parallel sequencing.<br />11. Hybrid Capture: Using synthetic DNA or RNA probes to select specific genetic loci for targeted sequencing.<br />12. Mapping: The process of searching the sequence of a read against a reference genome to determine its origin.<br />13. Mate-Pair Reads: Reads generated from long-insert paired-end DNA libraries.<br />14. Minor Allele Frequency (MAF): The proportion of chromosomes carrying the second most common allele at a given locus in a population.<br />15. Multiplex Sequencing: Simultaneous sequencing of multiple samples using barcode sequences.<br />16. Paired-End Read: Sequence read data obtained from both ends of a DNA fragment.<br />17. Phred Quality Score: An integer value used to estimate the probability of making a base call error.<br />18. Pileup: A text-based file summarizing the base calls of all aligned reads to a reference sequence.<br />19. RNA-Seq: NGS applied to whole transcriptome sequencing.<br />20. Variant Calling: Identifying sequence differences in an individual genome or transcriptome compared to a reference.<br />21. Whole Exome Sequencing (WES): Sequencing and analysis of the coding exons in a genome to identify variants.<br />22. Whole Genome Sequencing (WGS): Sequencing the entire genome for comprehensive variant detection.
Keywords
Next Generation Sequencing
Alignment
Annotation
Assembly
Barcode
Base Call Quality Score
Contig
Coverage
Demultiplexing
Exome
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