Article

Accurate detection of low-level somatic mutations with technical replication for next-generation sequencing

2017-08-23

Abstract excerpt

<h4>ABSTRACT</h4> Accurate genome-wide detection of somatic mutations with low variant allele frequency (VAF, <1%) has proven difficult, for which generalized, scalable methods are lacking. Herein, we describe a new computational method, called RePlow that we developed to detect low-VAF somatic mutations based on simple, library-level replicates for next-generation sequencing on any platform. Through joint analys...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 756b5825-7839-5a1d-9dc4-23609f7983e2
DOI: 10.1101/179713

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Accurate detection of low-level somatic mutations with technical replication for next-generation sequencingDOI 10.1101/179713Read

MAESTRO affords ‘breadth and depth’ for mutation testingSemantic proximity Read

Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read dataSemantic proximity Read

Comprehensive benchmarking of somatic mutation detection by the SMaHT NetworkSemantic proximity Read

Improved Mutation Detection in Duplex Sequencing Data with Sample-Specific Error ProfilesSemantic proximity Read

Accurate <i>de novo</i> detection of somatic mutations in high-throughput single-cell profiling data setsSemantic proximity Read

In-depth comparison of somatic point mutation callers based on different tumor next-generation sequencing depth data.Semantic proximity Read

Assessing and Optimizing Low-Frequency Somatic Mutation Detection: A Multi-Platform High-Throughput Sequencing PerspectiveSemantic proximity Read

Accurate de novo detection of somatic mutations in high-throughput single-cell profiling data setsSemantic proximity Read

Accurate Reference-Free Somatic Variant-Calling by Integrating Genomic, Sequencing and Population DataSemantic proximity Read

Comprehensive benchmarking of methods for mutation calling in circulating tumor DNA.Semantic proximity Read

smCounter2: an accurate low-frequency variant caller for targeted sequencing data with unique molecular identifiersSemantic proximity Read

Methods, challenges, and promise of next-generation sequencing in cancer biology.Semantic proximity Read