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Table 1 Information on the four variant calling models of Clair used in Clair-ensemble (CE) for variant detection of ECNano data

From: ECNano: A cost-effective workflow for target enrichment sequencing and accurate variant calling on 4800 clinically significant genes using a single MinION flowcell

Model

Training set

Specifications*

CE1-3-4

hg001 + hg003 + hg004 ONT data

Normal depth WGS model

CE1-2-2HD-3-4

hg001 + hg002 + hg002 very high depth (up to 500x) + hg003 + hg004 ONT data

Very high depth and normal depth WGS mixed model

CE1-2

hg001 + hg002 ONT data

Normal depth WGS model

CE1-2-3-4

hg001 + hg002 + hg003 + hg004 ONT data

Normal depth WGS model

  1. The models were trained with combinations of different ONT WGS datasets (Additional files in Ref. [16]). * Normal depth models were trained with datasets of maximum 168 × DoC, and the model with mixed high depth data included a dataset of maximum 578 × DoC
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BMC Medical Genomics

ISSN: 1755-8794

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