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Comparison of solution-based exome capture methods for next generation sequencing. Performance comparison of exome DNA sequencing technologies. Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries. Amplification-free Illumina sequencing-library preparation facilitates improved mapping and assembly of (G+C)-biased genomes. Accurate and comprehensive sequencing of personal genomes. The diploid genome sequence of an Asian individual.

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The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group. This is the first study to sequence a human genome using short reads it examines the read depth that is required for calling SNVs.Īhn, S. Accurate whole human genome sequencing using reversible terminator chemistry. Insights into the evolution of Darwin's finches from comparative analysis of the Geospiza magnirostris genome sequence. 2x genomes - does depth matter? Genome Res. An initial strategy for the systematic identification of functional elements in the human genome by low-redundancy comparative sequencing. Current challenges in de novo plant genome sequencing and assembly. Finished bacterial genomes from shotgun sequence data. The genome sequence of the colonial chordate, Botryllus schlosseri. Aegilops tauschii draft genome sequence reveals a gene repertoire for wheat adaptation. The sequence and de novo assembly of the giant panda genome.

Assembly of large genomes using second-generation sequencing. Initial sequencing and analysis of the human genome. National Human Genome Research Institute, (2013). DNA sequencing costs: data from the NHGRI Genome Sequencing Program (GSP). Sequence depth must be traded off against the need for control samples and replicates.

Sequence depth influences the accuracy by which rare events can be quantified in RNA sequencing, chromatin immunoprecipitation followed by sequencing (ChIP–seq) and other quantification-based assays. In human cells, 80% of transcripts that are expressed at >10 fragments per kilobase of exon per million reads mapped (FPKM) can be accurately quantified with ~36 million 100-bp paired-end sequenced reads.ĭepth of coverage is affected by the accuracy of genome alignment algorithms and by the uniqueness or the 'mappability' of sequencing reads within a target genome. The power to identify and accurately quantify RNA molecules is dependent on their lengths and abundance, and on the number of sequenced reads. The accuracy of variant calling is affected by sequence quality, uniformity of coverage and the threshold of false-discovery rate that is used. Hybrid sequencing approaches are being introduced to overcome problems in genome assembly and in placing highly repetitive sequence in a genome.įor DNA resequencing studies, the required sequencing capacity depends on the size of the regions of interest, the types of variant and the disease model being studied. The breadth of coverage is the percentage of target bases that have been sequenced for a given number of times. The average depth of sequencing coverage can be defined theoretically as LN/G, where L is the read length, N is the number of reads and G is the haploid genome length.

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