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ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing
by
Kaplun, Ludmila
,
Krautz-Peterson, Greice
,
Neerman, Nir
,
Stanley, Christine
,
Hussey, Shane
,
Folwick, Margo
,
McGarry, Ava
,
Weiss, Shirel
,
Kaplun, Alexander
Published in
Frontiers in genetics
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Frontiers In Genetics
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Clinical Genetic Testing
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Genetics
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Genetics & Heredity
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Life Sciences & Biomedicine
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Long Read Sequencing
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Orthogonal Variant Confirmation
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Oxford Nanopore Technologies
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Science & Technology
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Small Sequence Changes
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Structural Variants
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Whole Genome Sequencing
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