Whole Genome Sequencing in Era of Newborn Screening
Sydney Rudowski,
Cornelius Boerkoel,
Miao He
et al.
Abstract:After the completion of the human genome project, there have been many advances in the field of genetics. With next generation sequencing, patients can undergo genomic analysis through whole exome or whole genome testing. These comprehensive tests can shorten the diagnostic odyssey and guide medical management and thereby potentially reduce mortality and morbidity. To date, parents and physicians have reported positive perceptions of using these genomic testing even when a diagnosis is not made. Remaining chal… Show more
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