Gene Analysis Techniques by Jaime Rincon
English | 2024 | ISBN: 1682519007 | 298 pages | PDF | 11 Mb
Genetic analysis is a term used to describe the study of a sample of DNA to look at differences, or variants that may increase an individual's risk for disease or impact drug responses. Since the sequence of the human genome is complete, the main issue is how to understand the information written in the DNA sequence. Despite numerous genome-wide studies that have already been performed, the challenge to determine the function of genes, gene products, and also their interaction is still open. As changes in the human genome are highly likely to cause pathological conditions, functional analysis is vitally important for human health. For many years there have been a variety of technologies and tools used in functional genome analysis. However, only in the past decade there has been rapid revolutionizing progress and improvement in high-throughput methods, which are ranging from traditional real-time polymerase chain reaction to more complex systems, such as next-generation sequencing or mass spectrometry. Affordable genome sequencing technologies promise to revolutionize the field of human genetics by enabling comprehensive studies that interrogate all classes of genome variation, genome-wide, across the entire allele frequency spectrum. Ongoing projects worldwide are sequencing many thousands-and soon millions-of human genomes as part of various gene mapping studies, biobanking efforts, and clinical programs. However, while genome sequencing data production has become routine, genome analysis and interpretation remain challenging endeavors with many limitations and caveats.
This book aims to review the current state of technologies for genetic variant discovery, genotyping, and functional interpretation and discuss the prospects for future advances. It focuses on germline variants discovered by whole-genome sequencing, genome-wide functional genomic approaches for predicting and measuring variant functional effects, and implications for studies of common and rare human disease. The introduction of next generation sequencing has provided a major step forward in our ability to identify genetic variants influencing human traits. Whereas previous technologies restricted researchers to only certain candidate genes, diseases with clear inheritance patterns in very large families, and common genetic variation, we are now able to routinely assess humans for essentially all of the genetic variation present throughout the genome. This is true for common, low-frequency, and rare variants and even includes de novo mutations, a class that was previously difficult to systematically assess. While most next generation studies have thus far focused on coding variation via exome sequencing, this is evolving as costs decrease and our ability to interpret the non-protein coding portions of the genome improves.
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