Determination of RET sequence variation in an MEN2 unaffected cohort using multiple-sample pooling and next-generation sequencing
作者： RL Margraf , JD Durtschi , JE Stephens , M Perez , KV Voelkerding
DOI: 10.1155/2012/318232
关键词:
摘要: Multisample, nonindexed pooling combined with next-generation sequencing (NGS) was used to discover RET proto-oncogene sequence variation within a cohort known be unaffected by multiple endocrine neoplasia type 2 (MEN2). DNA samples (113 Caucasians, 23 persons of other ethnicities) were amplified for intron 9 16 and then divided into 5 pools <30 each before library prep NGS. Two controls included in this study, single sample pool 50 that had been previously sequenced the same NGS methods. All 59 variants detected 50-pool control present. Of 61 cohort, 20 novel changes. Several validated high-resolution melting analysis Sanger sequencing, their allelic frequencies correlated well those determined The results from will added MEN2 database.
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