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Basic Molecular Genetics Concepts and Tools: From SNPs to Chips 

Basic Molecular Genetics Concepts and Tools: From SNPs to Chips
Chapter:
Basic Molecular Genetics Concepts and Tools: From SNPs to Chips
Author(s):

Sevilla D. Detera-Wadleigh

, Nirmala Akula

, and Liping Hou

DOI:
10.1093/med/9780190221973.003.0003
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date: 20 May 2019

Progress in genetics in the last decades has been spurred largely by the Human Genome Project. Successful sequencing of the human genome and genomes of organisms across the evolutionary scale has been achieved. Scientific discoveries and innovations steered the refinement and annotation of sequences, cataloging of variation including SNPs and CNVs, development of fast, precise, high throughput methods and improved bioinformatics and statistical tools. These advances boosted GWAS on large samples identifying multiple susceptibility loci in diverse complex diseases and traits. Exome, whole genome and RNA sequencing has uncovered intricate elements of coding, noncoding and regulatory regions and the richness of the transcriptome. Evolution in genome editing has heightened the ability to alter any nucleotide and discern its biological effect. Exploiting these innovations in studies involving cells derived from patients through the iPSC technology offers manifold possibilities for functional studies that could enhance disease modeling and yield new therapeutic targets.

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