ISSN Print 2500–1094
ISSN Online 2542–1204
Bulletin of RSMU
BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)
ORIGINAL RESEARCH
The impact of sequencing depth on accuracy of single nucleotide variant calls
About authors
Genotek Inc., Moscow
Correspondence should be addressed: Valery Ilyinsky
per. Nastavnichesky, d. 17, str. 1, Moscow, Russia, 105120; ur.ketoneg@yrelav
About paper
Acknowledgements: the authors thank Anna Davydova of Genotek for her helpful comments.
All authors' contribution to this work is equal: selection and analysis of literature, planning of the manuscript's structure, data interpretation, drafting of the manuscript, editing.
Received: 2017-06-22
Accepted: 2017-06-27
Published online: 2017-07-19
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Fig. 1. Detection of Sanger-confirmed and unconfirmed mutations depending on the coverage depth and percentage of reads supporting the alternate allele. One point can represent more than one mutation
Fig. 2. Cumulative distribution of the percentage of samples with reads supporting the alternate allele X or less
Fig. 3. Percentage of target regions sequenced at 12x depending on the average coverage of target regions. Each point represents one sample
Varying the number and percentage of reads for filtering out reference and alternate homozygous variants
