
NCBI . NLM . NIH . GOV {
}
Title[redir]:
Detection and quantification of rare mutations with massively parallel sequencing - PMC
Description:
The identification of mutations that are present in a small fraction of DNA templates is essential for progress in several areas of biomedical research. Although massively parallel sequencing instruments are in principle well suited to this task, ...
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Keywords {🔍}
doi, dna, safeseqs, pubmed, google, scholar, mutations, sequencing, uid, pcr, pmc, analysis, article, fig, free, mutation, polymerase, base, number, errors, error, methods, uids, table, template, cells, identified, primers, conventional, data, human, templates, amplification, normal, sequences, mutationsbp, supermutants, rate, families, fidelity, cancer, assignment, analyzed, illumina, oligonucleotides, experiments, molecules, detection, fragments, family,
Topics {✒️}
high-quality base pairs single-strand dna-specific nuclease org/lookup/suppl/doi pmc beta search high-stringency base calling bar-coded multiplexed sequencing reduce false-positive calls high-throughput molecular analysis high-quality reads occasional single-base deletions klenow-fragment polymerase share high-throughput dna sequencing 7e-07 safe-seqs analysis high-throughput pyrosequencing double-stranded template molecule 6e-05 safe-seqs analysis 4e-05 safe-seqs analysis improved base-calling algorithms double-stranded dna fragment reduce false-positive mutations nominal mutant/normal fractions 36-base paired-end sequencing stringent base-calling criteria permitting solid-phase amplification real-time dna sequencing single strand-specific exonuclease high-fidelity gene synthesis residual base-calling errors y-shaped adapters short read lengths high-throughput discovery single-base substitutions represented false positives supporting information online publisher site pdf human genome variation subgenomes enables resequencing single-nucleotide polymorphisms single-nucleotide differences forward amplicon-specific primers massively parallel sequencing independent safe-seqs experiments sequence-verified dna identified supplementary materials included standard illumina protocols high error rate strong evidence supporting filter-based hybridization capture large-scale sample multiplexing double-stranded template
Questions {❓}
- Digital PCR: A powerful new tool for noninvasive prenatal diagnosis?
- Does Safe-SeqS preserve the ratio of mutant:normal sequences in the original templates?
- How do we know that the mutations identified by conventional analyses in the current study represent artifacts rather than true mutations in the original templates?
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