Direct mutation analysis by high-throughput sequencing: from germline to low-abundant, somatic variants

M Gundry, J Vijg - … and Molecular Mechanisms of Mutagenesis, 2012 - Elsevier
… use of sequencing as a practical tool for mutation analysis. While in the past the high cost of
sequencing limited mutation analysis to selectable markers or small forward mutation targets …

High-throughput sequencing in mutation detection: A new generation of genotoxicity tests?

AY Maslov, W Quispe-Tintaya, T Gorbacheva… - … of Mutagenesis, 2015 - Elsevier
… to directly analyze the genetic material in primary cells or tissues of any species in a high
throughput manner … cell lane, it is possible to perform genome-wide, point mutation analysis by …

Analysis of DNA sequence variants detected by highthroughput sequencing

DR Adams, M Sincan, K Fuentes Fajardo… - … mutation, 2012 - Wiley Online Library
… The article is designed to provide an analytic roadmap for variant analysis, thereby enabling
a wide range of researchers and clinical genetics practitioners to perform direct analysis of …

[HTML][HTML] A genome-wide mutation analysis method enabling high-throughput identification of chemical mutagen signatures

S Matsumura, Y Fujita, M Yamane, O Morita… - Scientific Reports, 2018 - nature.com
… In our analyses, genomic DNA samples were directly extracted from heterogeneous …
mutational analyses with a reduced amount of sequence data using sub-sampled sequence reads …

Recent developments in high-throughput mutation screening

LA Larsen, M Christiansen, J Vuust… - …, 2001 - Taylor & Francis
… ’ for mutation analysis is DNA sequencing. However, for … for mutation detection in DNA are
based on analysis of either the DNA sequence directly (eg, by methods based on sequencing

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next …

J Halbritter, K Diaz, M Chaki, JD Porath… - Journal of medical …, 2012 - jmg.bmj.com
… (C) Samples are submitted for high-throughput sequencing on a HiSeq2000 Illumina
platform performing a paired-end run of 2×100 bases. Fluidigm custom primers are used for …

Multiplex high-throughput gene mutation analysis in acute myeloid leukemia

J Dunlap, C Beadling, A Warrick, T Neff, WH Fleming… - Human pathology, 2012 - Elsevier
… Therefore, we tested a high-throughput screening method for acute myeloid leukemia
mutation analysis using a … All suspected mutations were confirmed by direct DNA sequencing. …

The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection

A Maitra, Y Cohen, SED Gillespie, E Mambo… - Genome …, 2004 - genome.cshlp.org
… previously analyzed by direct sequencing for mitochondrial DNA … mutation analysis—75
tumors encompassing >2 million bases of mitochondrial DNA were sequenced and analyzed by …

[PDF][PDF] Neurofibromatosis type 1 gene mutation analysis using sequence capture and high-throughput sequencing

E Uusitalo, A Hammais, E Palonen… - Acta Dermato …, 2014 - helda.helsinki.fi
The gDNA yield of 2.7–28 µg from the saliva samples was sufficient for mutation analysis.
The variation in the amount mostly depended on the original volume of saliva. Gel …

[HTML][HTML] Identification of driver and passenger mutations of FLT3 by high-throughput DNA sequence analysis and functional assessment of candidate alleles

S Fröhling, C Scholl, RL Levine, M Loriaux, TJ Boggon… - Cancer cell, 2007 - cell.com
… frequency and spectrum of sequence alterations outside these … high-throughput DNA
sequencing of all coding exons of FLT3 in AML patients without FLT3 ITDs or known AL mutations. …