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Table 4 MLPA results from the validation study.

From: Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA)

 

Prader-Willi

DiGeorge

Autism

HapMap

Gene/Region

#1

#2

#1

#2

#1

#2

#1

#2

#3

ENm323

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

ENm013

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

ENm014

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

RNAseP (RPP30)

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

ENr222

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

ENr111

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

ENr233

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

ENm313

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

ENr213

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

RP11-71N21

0

0

0

0

0

0

0

0

0

0

0

0

1

1

1

1

1

1

0

0

0

0

0

0

0

0

0

ZWINT

0

0

0

0

0

0

0

0

0

0

0

0

1

1

1

1

0

1

0

0

0

0

0

0

0

0

0

PHYLIP

0

0

0

0

0

0

0

0

0

0

0

0

1

1

1

1

1

1

0

0

0

0

0

0

0

0

0

SNRPN

-1

-1

-1

-1

-1

-1

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

UBEA3A

-1

-1

-1

-1

-1

-1

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

UBE3A

-1

-1

-1

-1

-1

-1

0

0

0

0

0

0

0

0

0

0

0

-1

0

0

0

0

0

0

0

0

0

HIRA

0

0

0

0

0

0

-1

-1

-1

-1

-1

-1

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

  1. The three colums for each individual indicates the result obtained using mixed-model, threshold and REX-MLPA approaches, respectively. The code for the results are the following: -1: relative loss, 0:normal, 1:relative gain. Those result where a disagreement between the three methods is observed are in bold face.