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KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses

High-coverage whole-genome sequencing data of a single ethnicity can provide a useful catalogue of population-specific genetic variations, and provides a critical resource that can be used to more accurately identify pathogenic genetic variants. We report a comprehensive analysis of the Korean popul...

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Detalles Bibliográficos
Autores principales: Kim, Jungeun, Weber, Jessica A., Jho, Sungwoong, Jang, Jinho, Jun, JeHoon, Cho, Yun Sung, Kim, Hak-Min, Kim, Hyunho, Kim, Yumi, Chung, OkSung, Kim, Chang Geun, Lee, HyeJin, Kim, Byung Chul, Han, Kyudong, Koh, InSong, Chae, Kyun Shik, Lee, Semin, Edwards, Jeremy S., Bhak, Jong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885007/
https://www.ncbi.nlm.nih.gov/pubmed/29618732
http://dx.doi.org/10.1038/s41598-018-23837-x