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A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants

Underrepresentation of non-European (EUR) populations hinders growth of global precision medicine. Resources such as imputation reference panels that match the study population are necessary to find low-frequency variants with substantial effects. We created a reference panel consisting of 14,393 wh...

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Detalles Bibliográficos
Autores principales: Choi, Jaeyong, Kim, Sungjae, Kim, Juhyun, Son, Ho-Young, Yoo, Seong-Keun, Kim, Chang-Uk, Park, Young Jun, Moon, Sungji, Cha, Bukyoung, Jeon, Min Chul, Park, Kyunghyuk, Yun, Jae Moon, Cho, Belong, Kim, Namcheol, Kim, Changhoon, Kwon, Nak-Jung, Park, Young Joo, Matsuda, Fumihiko, Momozawa, Yukihide, Kubo, Michiaki, Kim, Hyun-Jin, Park, Jin-Ho, Seo, Jeong-Sun, Kim, Jong-Il, Im, Sun-Wha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10411914/
https://www.ncbi.nlm.nih.gov/pubmed/37556544
http://dx.doi.org/10.1126/sciadv.adg6319