| CPC C12Q 1/6886 (2013.01) [C12M 1/00 (2013.01); C12M 1/34 (2013.01); C12Q 1/6806 (2013.01); C12Q 1/6855 (2013.01); C12Q 1/6869 (2013.01); G01N 33/57407 (2013.01); G16B 20/20 (2019.02); G16B 30/10 (2019.02); G16H 50/20 (2018.01); G16H 50/30 (2018.01); C12Q 2600/118 (2013.01); C12Q 2600/154 (2013.01); C12Q 2600/156 (2013.01); C12Q 2600/158 (2013.01); C12Q 2600/166 (2013.01)] | 20 Claims |
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1. A method for detecting a presence or absence of residual disease in a subject having previously received a treatment for cancer, the method comprising:
(a) ligating adapters to a plurality of cell-free deoxyribonucleic acid (cfDNA) molecules from a blood sample from the subject to produce adapter-ligated polynucleotides, wherein the blood sample was obtained from the subject after the treatment for cancer;
(b) amplifying a plurality of the adapter-ligated polynucleotides to produce amplified polynucleotides;
(c) enriching the amplified polynucleotides for a panel of targeted genomic regions by performing amplification-based enrichment, wherein the panel comprises no more than 20 genomic regions;
(d) sequencing a plurality of enriched cfDNA to generate sequencing data comprising sequencing reads, wherein the sequencing is performed at a depth of at least 50,000 reads per base; and
(e) determining a presence or absence of one or more genetic variants in the cfDNA molecules from the sequencing data to detect the presence or absence of residual disease in the subject.
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