Hyeseon Kim on Muck Rack

Hyeseon Kim

As seen in: Nature
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Articles

Accelerating genetic diagnosis in the NICU: neonatologist-driven rapid whole genome sequencing

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By Hye-Won Cho, Jeong-Min Kim, Sung Hyeon Park, Ho-Yeong Yu, Misun Yang, So Yoon Ahn, Bong-Jo Kim, Mi-Hyun Park, Mi-Ae Jang, Yun Sil Chang, Hyun-Young Park, Hyun-young Park, Hyeseon Kim
| Nature
Abstract To establish a rapid whole-genome sequencing (rWGS) workflow applicable to the neonatal intensive care unit (NICU) setting and evaluate its diagnostic utility and clinical feasibility. Twenty critically ill neonates with suspected genetic disorders were included in this study. A workflow for rWGS encompassing neonate enrollment through to the return of genetic diagnosis results was established.
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