Aug 21, 2008

Mapping short DNA sequencing reads and calling variants using mapping quality scores

Genome Research
Heng LiRichard Durbin

Abstract

New sequencing technologies promise a new era in the use of DNA sequence. However, some of these technologies produce very short reads, typically of a few tens of base pairs, and to use these reads effectively requires new algorithms and software. In particular, there is a major issue in efficiently aligning short reads to a reference genome and handling ambiguity or lack of accuracy in this alignment. Here we introduce the concept of mapping quality, a measure of the confidence that a read actually comes from the position it is aligned to by the mapping algorithm. We describe the software MAQ that can build assemblies by mapping shotgun short reads to a reference genome, using quality scores to derive genotype calls of the consensus sequence of a diploid genome, e.g., from a human sample. MAQ makes full use of mate-pair information and estimates the error probability of each read alignment. Error probabilities are also derived for the final genotype calls, using a Bayesian statistical model that incorporates the mapping qualities, error probabilities from the raw sequence quality scores, sampling of the two haplotypes, and an empirical model for correlated errors at a site. Both read mapping and genotype calling are evaluated ...Continue Reading

  • References28
  • Citations1381
  • References28
  • Citations1381

Citations

Mentioned in this Paper

In Silico
Genome Mapping
Computer Programs and Programming
Sequencing
Salmonella paratyphi
Sequence Determinations, DNA
Base Pairing
Toxic Epidermal Necrolysis
Bayesian Prediction
Diploid Cell

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