Characterizing linkage disequilibrium and evaluating imputation power of human genomic insertion-deletion polymorphisms.docVIP
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Characterizing linkage disequilibrium and evaluating imputation power of human genomic insertion-deletion polymorphisms
Luetal.GenomeBiology2012,13:R15
/2012/13/2/R15
RESEARCH
OpenAccess
Characterizinglinkagedisequilibriumand
evaluatingimputationpowerofhumangenomic
insertion-deletionpolymorphisms
JamesTLu1,2,YiWang1,RichardAGibbs1,3 andFuliYu1,3*
Abstract
Background:Indelsareanimportantcauseofhumanvariationandcentraltothestudyofhumandisease.The
1000GenomesProjectLow-CoveragePilotidentifiedover1.3millionindelsshorterthan50bp,ofwhichover890
wereidentifiedaspotentiallydisruptivevariants.Yet,despitetheirubiquity,thelocalgenomiccharacteristicsof
indelsremainunexplored.
Results:Hereinwedescribepopulation-andmino
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