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Fig. 2 | Genome Medicine

Fig. 2

From: Achieving high-sensitivity for clinical applications using augmented exome sequencing

Fig. 2

Coverage efficiency in the medically interpretable genome (MIG). Shown is the cumulative distribution of on-target sequence coverage obtained from sequencing NA12878 across multiple platforms: Personalis Accuracy and Content Enhanced (ACE) Clinical Exome, Agilent SureSelect Clinical Research Exome (SSCR), Agilent SureSelect Human All Exon v5 plus untranslated regions (UTR) (SS), lllumina’s Nextera Exome Enrichment (NX), NimbleGen SeqCap EZ Human Exome Library v3.0 (NG), and 31× whole-genome sequencing (WGS) using an Illumina PCR-free protocol. For clinical applications, we indicate ≥20× as the minimum coverage threshold required (gray line) among all coding (left) and non-coding (right) regions. For reference, insets show an expanded distribution of sequence coverage. ACE and conventional WES data are normalized to 100× mean target coverage

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