Summary: Ion Torrent sequencing is one of the most frequently used platforms in healthcare research and industry. Despite many advantages, platform-specific artifacts complicate efficient separation of true variants from errors, especially in variants with lower allele frequencies (<15%). Here, we developed a multi-step filtering toolbox AIRVF that works on flowgram, raw and mapped reads and called variants to reduce artifact-driven false variant calls. Tests on sequencing data of standard reference material showed up to approximately 98% reduction of false variants when combined to conventional public pipelines and approximately 48% to the in-house commercial solution, with a minimal loss of sensitivity. Availability and implementation: Th...
<div><p>The emergence of benchtop sequencers has made clinical genetic testing using next-generation...
Massive parallel sequencing (NGS) is useful in detecting and later classifying somatic driver mutati...
Meaningful analysis of next-generation sequencing (NGS) data, extensively produced by genomics studi...
Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, p...
Abstract Background ‘Next-generation’ (NGS) sequencing has wide application in medical genetics, inc...
ABSTRACT Motivation: In virology, massively parallel sequencing (MPS) opens many opportunities for s...
Motivation: In virology, massively parallel sequencing (MPS) opens many opportunities for studying v...
Following variant calling and annotation, accurate variant filtering is a crucial step to extract me...
The detection of somatic genetic variants forms the cornerstone of precision oncology. Molecular dia...
Yves Lemoine1,3,4 and David Hot1,3,4 Background: The rapid evolution in high-throughput sequencing (...
A critical step in detecting variants from next-generation sequencing data is post hoc filtering of ...
The Ion Proton sequencer from Thermo Fisher accurately determines sequence variants from target regi...
<div><p>A diversity of tools is available for identification of variants from genome sequence data. ...
<div><p>A critical step in detecting variants from next-generation sequencing data is <em>post hoc</...
Background: Targeted deep sequencing is a highly effective technology to identify known and novel si...
<div><p>The emergence of benchtop sequencers has made clinical genetic testing using next-generation...
Massive parallel sequencing (NGS) is useful in detecting and later classifying somatic driver mutati...
Meaningful analysis of next-generation sequencing (NGS) data, extensively produced by genomics studi...
Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, p...
Abstract Background ‘Next-generation’ (NGS) sequencing has wide application in medical genetics, inc...
ABSTRACT Motivation: In virology, massively parallel sequencing (MPS) opens many opportunities for s...
Motivation: In virology, massively parallel sequencing (MPS) opens many opportunities for studying v...
Following variant calling and annotation, accurate variant filtering is a crucial step to extract me...
The detection of somatic genetic variants forms the cornerstone of precision oncology. Molecular dia...
Yves Lemoine1,3,4 and David Hot1,3,4 Background: The rapid evolution in high-throughput sequencing (...
A critical step in detecting variants from next-generation sequencing data is post hoc filtering of ...
The Ion Proton sequencer from Thermo Fisher accurately determines sequence variants from target regi...
<div><p>A diversity of tools is available for identification of variants from genome sequence data. ...
<div><p>A critical step in detecting variants from next-generation sequencing data is <em>post hoc</...
Background: Targeted deep sequencing is a highly effective technology to identify known and novel si...
<div><p>The emergence of benchtop sequencers has made clinical genetic testing using next-generation...
Massive parallel sequencing (NGS) is useful in detecting and later classifying somatic driver mutati...
Meaningful analysis of next-generation sequencing (NGS) data, extensively produced by genomics studi...