首页>
外国专利>
RARE VARIANT CALLS IN ULTRA-DEEP SEQUENCING
RARE VARIANT CALLS IN ULTRA-DEEP SEQUENCING
展开▼
机译:超深层排序中的稀有变量调用
展开▼
页面导航
摘要
著录项
相似文献
摘要
Accurate variant calling methods for low frequency variants are provided. Sequence reads of targeted ultra-deep sequencing are received and aligned to a reference sequence. Read depths and variant counts for variants of the same class at each location where the reference allele exists on the reference sequence are determined for each sample-amplicon. Based on the read depths and variant counts, a probability value indicating the confidence level that a specific variant at a specific location is a true positive is calculated using methods such as a statistical model based method and a localized method using a reference sample. The probability value is then compared with a threshold level to determine whether the detected variants are true positives.
展开▼