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Genotype–Phenotype Correlation — Promiscuity in the Era of Next-Generation Sequencing
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Genotype–Phenotype Correlation — Promiscuity in the Era of Next-Generation Sequencing
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Journal Article
Genotype–Phenotype Correlation — Promiscuity in the Era of Next-Generation Sequencing
2014
Overview
Newly cost-effective next-generation sequencing has led to an explosion of discoveries of novel genetic mutations that reveal the rampant “promiscuity” of genotype–phenotype relationships. Such discoveries should ultimately revolutionize clinical care.
Ever since Mendel observed the varied phenotypes of peas — green or yellow, smooth or wrinkled — phenotypes have been used to systematically identify the genetic causes of disease. Similarly, genotype–phenotype relationships in humans could be dissected only if there were clearly recognizable, and relatively homogeneous, phenotypes. Since broad searches of genetic information were not technically feasible or cost-effective before the advent of next-generation sequencing (NGS), scientists studied well-characterized families to narrow the list of plausible genetic causes. However, being restricted to this set of “solvable” genetic problems led to ascertainment biases that favored highly penetrant mutations with straightforward functional . . .
Publisher
Massachusetts Medical Society
