Variants with a low allele frequency detected in genomic DNA affect the accuracy of mutation detection in cell-free DNA by next-generation sequencing.
Jacqueline F WangXingxiang PuXiaoshan ZhangKen ChenYuanxin XiJing WangXizeng MaoJianhua ZhangJohn V HeymachMara B AntonoffWayne L HofstetterReza J MehranDavid C RiceJack A RothBoris SepesiStephen G SwisherAra A VaporciyanGarrett L WalshQing H MengKenna R ShawAgda Karina EterovicBingliang FangPublished in: Cancer (2017)
Because only a small fraction of total cfDNA might be derived from tumor cells, only mutations with the first allele frequency pattern may be regarded as tumor-specific mutations in cfDNA. Effective filtering of background mutations will be required to improve the accuracy of mutation calls in cfDNA. Cancer 2018;124:1061-9. © 2017 American Cancer Society.