Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding
Clicks: 264
ID: 271052
2009
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 …
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kj2009genomesequence
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Authors | 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;; |
Journal | genome research |
Year | 2009 |
DOI | DOI not found |
URL | |
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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