New method improves accuracy of DNA sequencing 1,000-fold to detect rare geneticmutations broadinstitute NatureGenet
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Predicted hybridization yield of the double-stranded regions with oligonucleotide concentrations of 500 nM at 20 °C and [Na]=10 mM. The length of single-stranded linkers was determined to mitigate bending stiffness of a target duplex.
Ratios of the correct CODEC product and byproducts which have been named after how they were likely created. Expected mechanisms of byproduct formation. ‘Double ligation’ can occur when two adapter complexes are ligated to each end of an insert and go through T/T mismatched ligation with each other, as opposed to A/T ligation. ‘Blank ligation’ can occur when one or two adapter complexes go through T/T mismatched ligation with no insert.
‘No strand consensus’ treats each read of a read-pair as an independent read. ‘Single strand consensus’ is generated by collapsing multiple reads from the same strand of an original molecule, which cannot distinguish damaged bases from true mutations. ‘R1 + R2’ is a consensus between read 1 and 2 of paired-end sequencing, which both read the same library molecule from one strand of an original molecule. It does not suppress errors other than sequencing errors.
Mean unique duplex depth vs. raw read pairs per target after performing hybridization capture with personalized probe panels on cfDNA libraries of breast cancer patients and healthy donors. Samples were grouped by their mass into library construction. Mean unique duplex depths of cfDNA from four healthy donors which had the same input mass. We assumed that 20 ng input had 6000 haploid copies.
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