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Table 1 Comparison of detected cytogenetic aberrations

From: Systematic evaluation of signal-to-noise ratio in variant detection from single cell genome multiple displacement amplification and exome sequencing

Analysis dup(1q) del(1p) der(1)t(1;18) (p11;q11) der(1;7) (p11;q22) +i(5p) + 8 del(13) dup(17) del(19q)
Quentmeier & al. + – + – + + + + –
24-color karyotyping + – – + + + + + –
Exome sequencing +a + – +b +c + + +a +
  1. a Gains were detected from 5 cells and up, whereas losses were detected down to single cells. b The translocation involves a copy-gain and is thus matched by whole exome sequencing allele frequency analysis. c Observed as gain
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BMC Genomics

ISSN: 1471-2164

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