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Fig. 4 | BMC Medical Genomics

Fig. 4

From: Six years’ experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias

Fig. 4

Breakdown of unique rare variants across 3262 samples sequenced. a This flowchart demonstrates the number of unique variants that are filtered out at each progressive stage of our rare variant analysis algorithm. A total list of annotated variants is available in Additional file 1: Table S3. b The ontology breakdown of 2205 possible deleterious or damaging variants is presented in this bar graph. Loss-of-function variants are considered to be those with ontologies of either frameshift, splice acceptor, splice donor, stop gain, or stop loss. c These bar graphs demonstrate the distribution of CADD PHRED-scaled scores for 1916 non-loss-of-function variants (left) and 289 loss-of-function variants (right). Abbreviations: indels insertions or deletions, LOF loss-of-function, MAF minor allele frequency

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