SegSeq

[…] x. the mapping rate of clear data ranged from 97.03 to 97.27%, and the genome coverage ranged from 99.83% to 99.85 (additional file 1: table s5)., for cnv detection, we employed a matlab packet, segseq. only two de novo cnvs were identified in the proband. however, both cnvs were reported as polymorphisms in the database of genomic variants (dgv)., single nucleotide variants (snvs) […]

[…] including insertions, deletions, inversions and translocations of chromosome bands or arms). copy number variations (cnvs) were detected by an in-house program with an algorithm similar to software segseq 32 of broad institute. ebv integrations were also detected by an in-house program. after the variations were detected, annovar 33 was used to do annotation and classification., first, […]

[…] from gatk and further filtered on exon targets and individual sample genotypes were filtered on a genotype quality score of 50. copy-number alterations were detected based on sequence-read depths by segseq29; chromosomal rearrangements were detected from clusters of discordantly mapped reads with inferred insert size longer than 1 kb or mapped to different chromosomes. the observation […]