TY - JOUR AU - Ghoneim, Dalia H. AU - Myers, Jason R. AU - Tuttle, Emily AU - Paciorkowski, Alex R. PY - 2014 DA - 2014/12/01 TI - Comparison of insertion/deletion calling algorithms on human next-generation sequencing data JO - BMC Research Notes SP - 864 VL - 7 IS - 1 AB - Insertions/deletions (indels) are the second most common type of genomic variant and the most common type of structural variant. Identification of indels in next generation sequencing data is a challenge, and algorithms commonly used for indel detection have not been compared on a research cohort of human subject genomic data. Guidelines for the optimal detection of biologically significant indels are limited. We analyzed three sets of human next generation sequencing data (48 samples of a 200 gene target exon sequencing, 45 samples of whole exome sequencing, and 2 samples of whole genome sequencing) using three algorithms for indel detection (Pindel, Genome Analysis Tool Kit's UnifiedGenotyper and HaplotypeCaller). SN - 1756-0500 UR - https://doi.org/10.1186/1756-0500-7-864 DO - 10.1186/1756-0500-7-864 ID - Ghoneim2014 ER -