Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening.
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ABSTRACT:
SUBMITTER: Berg JS
PROVIDER: S-EPMC4665041 | biostudies-literature | 2015 Oct
REPOSITORIES: biostudies-literature
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Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening.
Berg Jonathan S JS Powell Cynthia M CM
Cold Spring Harbor perspectives in medicine 20151005 12
Since newborn screening (NBS) began in the 1960s, technological advances have enabled its expansion to include an increasing number of disorders. Recent developments now make it possible to sequence an infant's genome relatively quickly and economically. Clinical application of whole-exome and whole-genome sequencing is expanding at a rapid pace but presents many challenges. Its utility in NBS has yet to be demonstrated and its application in the pediatric population requires examination, not on ...[more]
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