Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders.
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| Title: | Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders. |
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| Authors: | Han H; 3billion, Inc., Seoul, South Korea., Seo GH; 3billion, Inc., Seoul, South Korea. ghseo@3billion.io., Hyun SI; 3billion, Inc., Seoul, South Korea.; Center for RNA Research, Institute for Basic Science, Seoul, South Korea., Kwon K; 3billion, Inc., Seoul, South Korea., Ryu SW; 3billion, Inc., Seoul, South Korea., Khang R; 3billion, Inc., Seoul, South Korea., Lee E; 3billion, Inc., Seoul, South Korea., Kim J; 3billion, Inc., Seoul, South Korea., Song Y; 3billion, Inc., Seoul, South Korea., Jeong WC; 3billion, Inc., Seoul, South Korea.; AI Research Center, Seegene Medical Foundation, Seoul, South Korea., Han J; 3billion, Inc., Seoul, South Korea., Kim DW; 3billion, Inc., Seoul, South Korea.; Graduate School of Science and Technology Policy, Korea Advanced Institute of Science and Technology, Daejeon, South Korea., Yang S; 3billion, Inc., Seoul, South Korea., Lee S; 3billion, Inc., Seoul, South Korea., Jang S; 3billion, Inc., Seoul, South Korea.; Genolution, Seoul, South Korea., Lee J; 3billion, Inc., Seoul, South Korea., Lee H; 3billion, Inc., Seoul, South Korea. hlee@3billion.io. |
| Source: | NPJ genomic medicine [NPJ Genom Med] 2025 Jan 22; Vol. 10 (1), pp. 6. Date of Electronic Publication: 2025 Jan 22. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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