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Title:
Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing | Genome Biology
Description:
Ultra-deep targeted sequencing (UDT-Seq) can identify subclonal somatic mutations in tumor samples. Early assays
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Keywords {๐}
samples, mutations, sample, cancer, sequencing, dna, calibration, prevalence, pubmed, additional, file, pcr, article, figure, read, udtseq, primer, error, assay, somatic, xenograft, google, scholar, depth, reads, coverage, table, clinical, mutation, rate, positions, tumor, cas, primary, analysis, genome, targeted, amplicons, usa, central, amplicon, position, detection, low, identified, snps, performance, genomic, mutational, sequence,
Topics {โ๏ธ}
tri-nucleotide pcr-specificity adapters ultra-deep targeted sequencing article download pdf multiple-alignment mouse-human track platinum high-fidelity taq articleย numberย r124 somatic d-loop mutation high-throughput sequencing data sequence alignment/map format n-ras point mutations n-ras exon-1 mutations small-cell lung cancer gastro-intestinal stromal tumors large-scale targeted sequencing generation sequencing technology microdroplet-based pcr enrichment position-dependent error rate allele-specific bias generated initial udt-seq profiles udt-seq assay interrogates confer adapter-strand specificity pre-clinical drug development calibration-tested sample combinations massively parallel sequencing local sequence-specific context full size image apc-r283x show significant ptc-225 thermal cycler udt-seq approach presented privacy choices/manage cookies molecularly defined trials single somatic mutation tri-nucleotide sequence xenograft-specific mutations revealed custom primer library teknova-fisher hollister ca related subjects snap-frozen tissue samples closest data point human genome sequencing binomial test p-values clinical trials testing tyrosine kinase domain polymerase chain reaction high sequence coverage single sample generated common inactivating mutation reported genomic location california san diego sheared genomic dna
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headline:Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing
description:Ultra-deep targeted sequencing (UDT-Seq) can identify subclonal somatic mutations in tumor samples. Early assays' limited breadth and depth restrict their clinical utility. Here, we target 71 kb of mutational hotspots in 42 cancer genes. We present novel methods enhancing both laboratory workflow and mutation detection. We evaluate UDT-Seq true sensitivity and specificity (> 94% and > 99%, respectively) for low prevalence mutations in a mixing experiment and demonstrate its utility using six tumor samples. With an improved performance when run on the Illumina Miseq, the UDT-Seq assay is well suited for clinical applications to guide therapy and study clonal selection in heterogeneous samples.
datePublished:2011-12-20T00:00:00Z
dateModified:2011-12-20T00:00:00Z
pageStart:1
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license:http://creativecommons.org/licenses/by/2.0/
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keywords:
Somatic Mutation
Calibration Sample
Read Depth
Coverage Depth
Whole Genome Amplification
Animal Genetics and Genomics
Human Genetics
Plant Genetics and Genomics
Microbial Genetics and Genomics
Bioinformatics
Evolutionary Biology
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headline:Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing
description:Ultra-deep targeted sequencing (UDT-Seq) can identify subclonal somatic mutations in tumor samples. Early assays' limited breadth and depth restrict their clinical utility. Here, we target 71 kb of mutational hotspots in 42 cancer genes. We present novel methods enhancing both laboratory workflow and mutation detection. We evaluate UDT-Seq true sensitivity and specificity (> 94% and > 99%, respectively) for low prevalence mutations in a mixing experiment and demonstrate its utility using six tumor samples. With an improved performance when run on the Illumina Miseq, the UDT-Seq assay is well suited for clinical applications to guide therapy and study clonal selection in heterogeneous samples.
datePublished:2011-12-20T00:00:00Z
dateModified:2011-12-20T00:00:00Z
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Somatic Mutation
Calibration Sample
Read Depth
Coverage Depth
Whole Genome Amplification
Animal Genetics and Genomics
Human Genetics
Plant Genetics and Genomics
Microbial Genetics and Genomics
Bioinformatics
Evolutionary Biology
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