@article{1a92f162205c4871ad5f917207eea4a0,
title = "Effective detection of rare variants in pooled DNA samples using Cross-pool tailcurve analysis",
abstract = "Sequencing targeted DNA regions in large samples is necessary to discover the full spectrum of rare variants. We report an effective Illumina sequencing strategy utilizing pooled samples with novel quality (Srfim) and filtering (SERVIC 4E) algorithms. We sequenced 24 exons in two cohorts of 480 samples each, identifying 47 coding variants, including 30 present once per cohort. Validation by Sanger sequencing revealed an excellent combination of sensitivity and specificity for variant detection in pooled samples of both cohorts as compared to publicly available algorithms.",
author = "Niranjan, {Tejasvi S.} and Abby Adamczyk and Bravo, {H{\'e}ctor C.} and Taub, {Margaret A.} and Wheelan, {Sarah J.} and Rafael Irizarry and Tao Wang",
note = "Funding Information: We thank Dr David Valle of Johns Hopkins University for critical reading of this manuscript, Autism Genetics Research Exchange (AGRE) and Greenwood Genetic Center (GGC) for DNA samples used in this study, and Dr Manuel Rivas of the Massachusetts Institute of Technology and the University of Oxford with assistance in running Syzygy. This work was supported in part by a pilot grant (#2487) from Autism Speaks (to TW), a research grant from the Brain Science Institute at Johns Hopkins University, R01HD52680 from NICHD (to TW), and R01HG005220 from NHGRI (to RI). TSN is a student of the Predoctoral Training Program in Human Genetics at Johns Hopkins University.",
year = "2011",
month = sep,
day = "28",
doi = "10.1186/gb-2011-12-9-r93",
language = "English (US)",
volume = "12",
journal = "Genome biology",
issn = "1474-7596",
publisher = "BioMed Central",
number = "9",
}