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Table 3 Characteristics of SplazerS-mapped breakpoint spanning reads

From: Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Sample number Read ID 5’ match (nt) 3’ match (nt) Trimmed read length (nt) Strand Chr 5’ match start 5’ match stop 3’ match start 3’ match stop
1 1:1207:14146:94852 64 111 175 + 6 135750881 135750944 135756275 135756385
16 2:2114:3289:41334 112 58 170 - 2 202529915 202530026 202505783 202505840
16 2:2115:10757:93844 76 99 175 - 2 202529915 202529990 202505742 202505840
  1. Genomic coordinates are provided for hg19 with respect to the strand from which the read was sequenced
  2. nt nucleotides, Chr chromosome