Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Exome and whole-genome sequencing are becoming increasingly routine approaches in Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic analyses across a variety of rare diseases is approximately 25 to 50%. We explore the utility of transcriptome sequencing [RNA...
主要な著者: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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その他の著者: | |
フォーマット: | 論文 |
言語: | English |
出版事項: |
American Association for the Advancement of Science (AAAS)
2020
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オンライン・アクセス: | https://hdl.handle.net/1721.1/127810 |