[B! Variome] ma_koã®ãƒ–ãƒƒã‚¯ãƒžãƒ¼ã‚¯

ma_ko id:ma_ko

Variomeã«é–¢ã™ã‚‹ma_koã®ãƒ–ãƒƒã‚¯ãƒžãƒ¼ã‚¯ (2)

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Variant Notation: In simplicity we find complexity - The Golden Helix Blog
ma_ko 2014/10/30
ã“ã® "GATK left align ã«ã‚ˆã‚‹æ¬ å¤±ã®å·¦å¯„ã›"ã¨"HGVS æµå„€ã®å³å¯„ã›" å•é¡Œã§ãƒã‚¤ã‚ªã‚¤ãƒ³ãƒ•ã‚©ãƒ»ã‚¸ã‚§ãƒãƒ†ã‚£ã‚¯ã‚¹ã®äººé–“ãŒè‹¦ã—ã§ã‚‹ã“ã¨ã«æ°—ä»˜ã„ãŸ (è‹¦ã—ã‚“ã )

Exome

bioinformatics

Variome
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http://www.humanvariomeproject.org/
ma_ko 2009/04/09
Disease associated mutations ã‚’ç¶²ç¾…ã™ã‚‹ãœ / Researcher + Clinician ãŒæƒã£ã¦ç–¾æ‚£ã¨éºä¼åã«å‘ãåˆã„ã€ (ç—…æ…‹ã®è©³ç´°ãªã©) æƒ…å ±ã«ãƒ•ãƒªãƒ¼ã‚¢ã‚¯ã‚»ã‚¹ã§ãã‚‹ç’°å¢ƒã¯æ¸‡æœ›ã—ã¦ã‚‹ã‚ˆã€ãƒžã‚¸ã§ã€‚ã‚‚ã£ã¨æ—©ãä¸–ç•Œã‚’è‰¯ãå‡ºæ¥ã‚‹ã‚“ã˜ã‚ƒãï¼Ÿã£ã¦æ€ã†ã‚‚ã®

Variome

Genetics
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Variant Notation: In simplicity we find complexity - The Golden Helix Blog

http://www.humanvariomeproject.org/

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