- "DNA sequencing is the process of determining the nucleic acid sequence – the order of nucleotides in DNA."
The use of high-throughput DNA sequencing technologies to analyze genetic variation and identify disease-causing mutations.
Genomics: The study of all the genes in an organism or population of organisms.
Transcriptomics: The study of all the RNA molecules produced by an organism or population of organisms.
Proteomics: The study of all the proteins produced by an organism or population of organisms.
Metagenomics: The study of all the genetic material in an environment, including that of microbes.
DNA sequencing technologies: Techniques and technologies used to determine the sequence of DNA.
Next-generation sequencing: High-throughput DNA sequencing technologies that can rapidly generate large amounts of sequence data.
Genome assembly: The process of assembling the individual reads generated by next-generation sequencing into a full genome sequence.
Transcriptome assembly: The process of assembling the individual RNA reads generated by next-generation sequencing into a full transcriptome sequence.
Variant detection: The process of identifying differences in DNA sequence between individuals or populations.
Annotation: The process of identifying and classifying the various components of a genome, such as genes, regulatory regions, pseudogenes, and non-coding regions.
Immunogenetics: The study of the genetic basis of the immune system and its response to pathogens and other environmental challenges.
Immunology: The study of the immune system, including its structure, function, and response to different challenges.
HLA typing: The process of determining an individual's human leukocyte antigen (HLA) profile, which plays an important role in immune response and transplant compatibility.
Immune receptor repertoire sequencing: The process of sequencing the genes encoding the B-cell receptors and T-cell receptors, which play key roles in recognizing and responding to pathogens and other challenges.
Applications of next-generation sequencing in immunogenetics: Examples of how next-generation sequencing can be used to study the genetic basis of the immune system, identify genetic variants associated with disease susceptibility or response to therapy, and develop personalized treatments.
Whole Genome Sequencing (WGS): This involves complete sequencing of the entire genome of an individual. WGS can identify all genetic variants including single nucleotide polymorphisms (SNPs), insertions/deletions (indels), copy number variations (CNVs), and structural variations (SVs).
Whole Exome Sequencing (WES): This involves sequencing only the protein-coding regions of the genome, which make up about 2% of the total genome. WES is cheaper than WGS and can be used to identify variants that are likely to have functional consequences, such as missense mutations.
RNA sequencing (RNA-seq): This involves sequencing the transcriptome, which is the complete set of RNA molecules transcribed from the genome. RNA-seq can be used to identify differentially expressed genes or splicing variants in response to different stimuli.
Targeted Sequencing: This involves sequencing specific genomic regions of interest, such as genes, regulatory elements, or chromosomal regions. Targeted sequencing can be performed using custom designed panels or commercially available kits.
Single-cell sequencing: This involves sequencing the genome, transcriptome, or epigenome of individual cells. Single-cell sequencing enables researchers to study cellular heterogeneity and identify distinct cell populations in complex tissues.
ChIP-seq (Chromatin Immunoprecipitation Sequencing): This involves sequencing the DNA fragments that are bound to a particular protein of interest, usually a transcription factor or a histone modification. ChIP-seq can identify genomic regions that are associated with specific regulatory elements and identify target genes.
ATAC-seq (Assay for Transposase-Accessible Chromatin Sequencing): This involves sequencing open chromatin regions in the genome, which are accessible to the transposase enzyme. ATAC-seq can be used to identify regulatory elements and study chromatin accessibility.
CITE-seq (Cellular Indexing of Transcriptomes and Epitopes by sequencing): This involves sequencing the transcriptome and protein expression of individual cells in a single workflow. CITE-seq enables simultaneous profiling of gene expression and immune cell surface markers.
TCR (T-cell receptor) sequencing: This involves sequencing the variable regions of the TCR genes, which are responsible for recognizing and binding to antigens. TCR sequencing can be used to identify clonal T-cell populations and study the immune response to pathogens or tumors.
BCR (B-cell receptor) sequencing: This involves sequencing the variable regions of the BCR genes, which are responsible for recognizing and binding to antigens. BCR sequencing can be used to identify clonal B-cell populations and study the immune response to pathogens or tumors.
HLA (Human Leukocyte Antigen) typing: This involves sequencing the major histocompatibility complex (MHC) genes, which are responsible for presenting antigens to T-cells. HLA typing can be used to identify compatibility between donor and recipient in transplant patients or to identify disease-associated HLA alleles.
- "It includes any method or technology that is used to determine the order of the four bases: adenine, guanine, cytosine, and thymine."
- "The advent of rapid DNA sequencing methods has greatly accelerated biological and medical research and discovery."
- "Knowledge of DNA sequences has become indispensable for basic biological research, DNA Genographic Projects, and in numerous applied fields such as medical diagnosis, biotechnology, forensic biology, virology, and biological systematics."
- "Comparing healthy and mutated DNA sequences can diagnose different diseases, including various cancers."
- "Comparing healthy and mutated DNA sequences can... be used to guide patient treatment."
- "Having a quick way to sequence DNA allows for faster and more individualized medical care to be administered, and for more organisms to be identified and cataloged."
- "The rapid speed of sequencing attained with modern DNA sequencing technology has been instrumental in the sequencing of complete DNA sequences, or genomes, of numerous types and species of life."
- "The first DNA sequences were obtained in the early 1970s by academic researchers."
- "The first DNA sequences were obtained... using laborious methods based on two-dimensional chromatography."
- "Following the development of fluorescence-based sequencing methods with a DNA sequencer, DNA sequencing has become easier and orders of magnitude faster."