P475: Minimizing false negatives in NGS-based diagnostic testing by optimizing variant filtering strategy*

Bibliographic Details
Main Authors: Bin Guan, Amelia Naik, Ehsan Ullah, David McGaughey, Aime Agather, Brian Brooks, Robert Hufnagel
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774423005228
_version_ 1797341958288441344
author Bin Guan
Amelia Naik
Ehsan Ullah
David McGaughey
Aime Agather
Brian Brooks
Robert Hufnagel
author_facet Bin Guan
Amelia Naik
Ehsan Ullah
David McGaughey
Aime Agather
Brian Brooks
Robert Hufnagel
author_sort Bin Guan
collection DOAJ
first_indexed 2024-03-08T10:26:29Z
format Article
id doaj.art-4958d0c8730346e3810c57179178642a
institution Directory Open Access Journal
issn 2949-7744
language English
last_indexed 2024-03-08T10:26:29Z
publishDate 2023-01-01
publisher Elsevier
record_format Article
series Genetics in Medicine Open
spelling doaj.art-4958d0c8730346e3810c57179178642a2024-01-27T07:08:56ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100522P475: Minimizing false negatives in NGS-based diagnostic testing by optimizing variant filtering strategy*Bin Guan0Amelia Naik1Ehsan Ullah2David McGaughey3Aime Agather4Brian Brooks5Robert Hufnagel6NEI, NIHNEI, NIHNEI, NIHNEI, NIHNEI, NIHNEI, NIHNEI, NIHhttp://www.sciencedirect.com/science/article/pii/S2949774423005228
spellingShingle Bin Guan
Amelia Naik
Ehsan Ullah
David McGaughey
Aime Agather
Brian Brooks
Robert Hufnagel
P475: Minimizing false negatives in NGS-based diagnostic testing by optimizing variant filtering strategy*
Genetics in Medicine Open
title P475: Minimizing false negatives in NGS-based diagnostic testing by optimizing variant filtering strategy*
title_full P475: Minimizing false negatives in NGS-based diagnostic testing by optimizing variant filtering strategy*
title_fullStr P475: Minimizing false negatives in NGS-based diagnostic testing by optimizing variant filtering strategy*
title_full_unstemmed P475: Minimizing false negatives in NGS-based diagnostic testing by optimizing variant filtering strategy*
title_short P475: Minimizing false negatives in NGS-based diagnostic testing by optimizing variant filtering strategy*
title_sort p475 minimizing false negatives in ngs based diagnostic testing by optimizing variant filtering strategy
url http://www.sciencedirect.com/science/article/pii/S2949774423005228
work_keys_str_mv AT binguan p475minimizingfalsenegativesinngsbaseddiagnostictestingbyoptimizingvariantfilteringstrategy
AT amelianaik p475minimizingfalsenegativesinngsbaseddiagnostictestingbyoptimizingvariantfilteringstrategy
AT ehsanullah p475minimizingfalsenegativesinngsbaseddiagnostictestingbyoptimizingvariantfilteringstrategy
AT davidmcgaughey p475minimizingfalsenegativesinngsbaseddiagnostictestingbyoptimizingvariantfilteringstrategy
AT aimeagather p475minimizingfalsenegativesinngsbaseddiagnostictestingbyoptimizingvariantfilteringstrategy
AT brianbrooks p475minimizingfalsenegativesinngsbaseddiagnostictestingbyoptimizingvariantfilteringstrategy
AT roberthufnagel p475minimizingfalsenegativesinngsbaseddiagnostictestingbyoptimizingvariantfilteringstrategy