| 摘要 |
Disclosed is a method of grouping sequence fragments generated using a concatenation-based method. Genomic DNA is fragmented, and the fragments are concatenated. The concatenation products are again fragmented, and may be amplified. The fragments or amplification products thereof are sequenced. The resulting sequences may then contain the sequence of the 3 or 5 ends of fragments corresponding to the locus of interest, and the sequence of the fragments flanking these ends. The reads are grouped based on either the 3/5 ends, the flanking sequences, or both. The probability of the sequence being a true read or a sequencing error chan then be calculated, and the total variation quantified. The concatenation can be performed by ligation. The amplification can be performed by a whole-genome method. The method can be used to identify a minority variant present in the sample, which can be used in cancer diagnostics. |
