Article

Target variant detection in leukemia using unaligned RNA-Seq reads

2018-04-05

Abstract excerpt

Mutations identified in each Acute Myeloid Leukemia (AML) patients are useful for prognosis and to select targeted therapies. Detection of such mutations by the analysis of Next-Generation Sequencing (NGS) data requires a computationally intensive read mapping step and application of several variant calling methods. Targeted mutation identification drastically shifts the usual tradeoff between accuracy and perform...

Topics

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

Identifiers and source

Literature Corpus work: 92d5c27d-4fa0-5a72-9f24-dd9ca144365c
DOI: 10.1101/295808

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Target variant detection in leukemia using unaligned RNA-Seq readsDOI 10.1101/295808Read

Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing.Semantic proximity Read

TAP: a targeted clinical genomics pipeline for detecting transcript variants using RNA-seq data.Semantic proximity Read

BreaKmer: detection of structural variation in targeted massively parallel sequencing data using kmers.Semantic proximity Read

A k-mer based transcriptomics analysis for NPM1-mutated AMLSemantic proximity Read

Targeted Next-Generation Sequencing of Acute Leukemia.Semantic proximity Read

Accurate and Sensitive Analysis of Minimal Residual Disease in Acute Myeloid Leukemia Using Deep Sequencing of Single Nucleotide VariationsSemantic proximity Read

Detailed molecular characterisation of acute myeloid leukaemia with a normal karyotype using targeted DNA capture.Semantic proximity Read

Targeted next generation sequencing of clinically significant gene mutations and translocations in leukemia.Semantic proximity Read

RaScALL: Rapid (Ra) screening (Sc) of RNA-seq data for prognostically significant genomic alterations in acute lymphoblastic leukaemia (ALL)Semantic proximity Read

Optimized pipeline of MuTect and GATK tools to improve the detection of somatic single nucleotide polymorphisms in whole-exome sequencing data.Semantic proximity Read

Next-generation sequencing-based multigene mutational screening for acute myeloid leukemia using MiSeq: applicability for diagnostics and disease monitoring.Semantic proximity Read

Analytical Evaluation of Whole Genome Sequencing for Acute Myeloid LeukemiaSemantic proximity Read