Coverage (genetics)

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Coverage or depth in genetics refers to the number of times a given nucleotide has been read for sequencing in genetic mapping.[1] While sequencing is highly accurate, the human genome has a vast number of nucleotides and so even a low error rate can produce a significant number of errors if the whole genome is only read once. Repeatedly reading a given area offers the opportunity to eliminate errors there.

In 2011 paper for Genome Research, Ajay et al. arqued that "the current recommendation of ∼30× coverage is not adequate to produce genotype calls across a large fraction of the genome with acceptably low error rates."[2]

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  1. Ponting, Chris P.; Heger, Andreas; Ilott, Nicholas E.; Sudbery, Ian; Sims, David (February 2014). "Sequencing depth and coverage: key considerations in genomic analyses". Nature Reviews Genetics. 15 (2): 121–132. doi:10.1038/nrg3642. ISSN 1471-0064.
  2. Ajay, Subramanian S.; Parker, Stephen C.J.; Ozel Abaan, Hatice; Fuentes Fajardo, Karin V.; Margulies, Elliott H. (September 2011). "Accurate and comprehensive sequencing of personal genomes". Genome Research. 21 (9): 1498–1505. doi:10.1101/gr.123638.111. ISSN 1088-9051. PMC 3166834. PMID 21771779.