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Table 1 Cohort of patients diagnosed with Duchenne muscular dystrophy (DMD)

From: Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis

Sample ID Identifier Detection method SV identified SV size (bp) by NGM Coverage by NGM
CDMD1003 Proband PCR Hemizygous deletion (exons 46–51) –182,665 72x
CDMD1155 Proband MLPA Hemizygous deletion (exons 48–54) –224,364 104x
CDMD1156 Proband MLPA Hemizygous deletion (exons 49–50) –59,771 74x
CDMD1159 Proband MLPA Hemizygous deletion (exon 52) –45,839 90x
CDMD1131 Proband PCR, MLPA Hemizygous deletion (exons 45–partial 51) –250,092 118x
CDMD1132 Mother aCGH Heterozygous deletion (exons 45–51 [carrier]) –249,994 96x
CDMD1157 Proband MLPA Hemizygous deletion (exons 46–51) –184,882 85x
CDMD1158 Mother N/A Unknown before NGM; Not a carrier of exons 46–51 deletion N/A 80x
CDMD1163 Proband aCGH Hemizygous duplication (exons 3–4) +12,968 87x
CDMD1164 Mother N/A Unknown before NGM; carrier of exons 3–4 duplication +12,857 158x
CDMD1187 Proband PCR, MLPA, RNA-seq, WGS Hemizygous inversion (exons 38–end) 5.1 Mb 90x
  1. Cases with SV in DMD are shown. The “detection method” column describes methods used to identify affected exons of DMD. The “+” and “-” signs in the “SV size (bp) by NGM” column represent gain or loss of DNA material, respectively. The last column describes the effective genome coverage (defined as the total amount of the data produced in base pairs divided by the genome size [3.2 Gbp in the case of humans] and multiplied by molecule-to-reference map rate (typical range 55–85%).
  2. PCR polymerase chain reaction, RNA-seq RNA sequencing, WGS whole-genome sequencing, MLPA multiplex ligation-dependent probe amplification, aCGH microarray-based comparative genomic hybridization
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Genome Medicine

ISSN: 1756-994X

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