Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding
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Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

McKernan KJ;Peckham HE;Costa GL;McLaughlin SF;Fu Y;Tsung EF;Clouser CR;Duncan C;Ichikawa JK;Lee CC;Zhang Z;Ranade SS;Dimalanta ET;Hyland FC;Sokolsky TD;Zhang L;Sheridan A;Fu H;Hendrickson CL;Li B;Kotler L;Stuart JR;Malek JA;Manning JM;Antipova AA;Perez DS;Moore MP;Hayashibara KC;Lyons MR;Beaudoin RE;Coleman BE;Laptewicz MW;Sannicandro AE;Rhodes MD;Gottimukkala RK;Yang S;Bafna V;Bashir A;MacBride A;Alkan C;Kidd JM;Eichler EE;Reese MG;De La Vega FM;Blanchard AP;;
genome research 2009 Vol. 19 pp. -
326
kj2009genomesequence

Abstract

We describe the genome sequencing of an anonymous individual of African origin using a novel ligation-based sequencing assay that enables a unique form of error correction that improves the raw accuracy of the aligned reads to >99.9%, allowing us to accurately call SNPs with as few as two reads p …

Keywords

National Center for Biotechnology Information NCBI NLM MEDLINE Africa humans pubmed abstract nih national institutes of health national library of medicine research support N.I.H. Extramural Sequence Analysis genome Evaluation Study Base Sequence Genotype Polymorphism DNA / methods* computational biology / methods* genomics single nucleotide reference standards human* homozygote heterozygote genetic variation* pmid:19546169 pmc2752135 doi:10.1101/gr.091868.109 kevin judd mckernan heather e peckham alan p blanchard base pairing* ligases*

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