Art
J-GLOBAL ID：202002267432835552   Reference number：20A0638594

Effectiveness of integrated interpretation of exome and corresponding transcriptome data in detecting splicing variants: Population and clinical studies

スプライシングバリアント検出におけるエクソームと対応するトランスクリプトームデータの統合解釈の有効性
Author (5)：
YAMADA Mamiko

About YAMADA Mamiko

(Keio Univ. School of Medicine)

About Keio Univ. School of Medicine

, 
SHIRAISHI Yuichi

About SHIRAISHI Yuichi

(National Cancer Center Res. Inst.)

About National Cancer Center Res. Inst.

, 
SUZUKI Hisato

About SUZUKI Hisato

(Keio Univ. School of Medicine)

About Keio Univ. School of Medicine

, 
KUROSAWA Kenji

About KUROSAWA Kenji

(Kanagawa Children’s Medical Center, JPN)

About Kanagawa Children’s Medical Center, JPN

, 
KOSAKI Kenjiro

About KOSAKI Kenjiro

(Keio Univ. School of Medicine)

About Keio Univ. School of Medicine


Material：
日本先天異常学会学術集会プログラム・抄録集  (Program and Abstract. Annual Meeting of the Japanese Teratology Society)

About 日本先天異常学会学術集会プログラム・抄録集


Volume： 59th  Page： 212  Publication year： 2019 
JST Material Number： L5543A  Document type： Proceedings
Article type： 会議録記事  Country of issue： Japan (JPN)  Language： ENGLISH (EN)
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human(primates)

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Exome

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Congenital diseases,deformities in general. 
(GD03010V)

About Congenital diseases,deformities in general.

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スプライシングバリアント

About スプライシングバリアント

, 
エクソーム

About エクソーム

, 
統合

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, 
有効性

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