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Fig. 4 | Genome Biology

Fig. 4

From: Resolving intra-repeat variation in medically relevant VNTRs from short-read sequencing data using the cardiovascular risk gene LPA as a model

Fig. 4

From the previously generated KIV-2 variation dataset with known KIV-2 variants [2] (I), we selected 8 samples (dataset A) for the setup of our KIV-2 variant calling pipeline in exome data and 16 samples (dataset B) for benchmarking (II). Subsequently, we generated WES data (III) in two sequencing experiments (experiment-1 and experiment-2), using two different exon enrichment kits, namely Agilent SureSelect v6 kit (experiment-1) and v8 kit (experiment-2). Dataset A was sequenced in both experiments, and the obtained WES data are called dataset A experiment-1 and dataset A experiment-2. Samples from dataset B were processed only in experiment-2 (v8 kit)

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Genome Biology

ISSN: 1474-760X

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