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Flow chart indicating the validation process for variants.

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posted on 2015-11-06, 04:11 authored by Kei-ichi Morita, Takuya Naruto, Kousuke Tanimoto, Chisato Yasukawa, Yu Oikawa, Kiyoshi Masuda, Issei Imoto, Johji Inazawa, Ken Omura, Hiroyuki Harada

After four validation steps, nine genetic variants were selected, as shown in Table 2.

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gs snv PTCH 1 mutations Gorlin Syndrome Gorlin syndrome copy number alterations individual ngs germline PTCH 1 mutations gene Single Nucleotide Variations alignment map files PTCH 1 cna copy number status

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