Mother WXS: Sample jp-scid5b
Libraries prepared by ligating TruSeq adaptors (Illumina: San Diego, CA) to genomic DNA fragments of 200–300 bp, enriched with 10 cycles of PCR, pooled and submitted to exon capture using Roche Nimblegen 3.0 capture array. After 10 additional amplification cycles, 100 bp paired end sequence reads were generated (HiSeq2000, llumina), yielding 3.8 % duplicates and a mean of >100 reads covering the targeted regions, with >95 % of target regions having ≥10 reads. See details at: Punwani D, Zhang Y, Yu J, Cowan MJ, Rana S, Kwan A, Adhikari AN, Lizama CO, Mendelsohn BA, Fahl SP, Chellappan A, Srinivasan R, Brenner SE, Wiest DL, Puck JM. Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B. N Engl J Med. 2016 Dec 1;375(22):2165-2176. doi: 10.1056/NEJMoa1509164. PMID: 27959755; PMCID: PMC5215776. Patel JP, Puck JM, Srinivasan R, Brown C, Sunderam U, Kundu K, Brenner SE, Gatti RA, Church JA. Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs). J Clin Immunol. 2015 Feb;35(2):227-33. doi: 10.1007/s10875-015-0136-6. Epub 2015 Feb 13. PMID: 25677497; PMCID: PMC4352190.