Dataset Information



ABSTRACT: Ionizing radiation is an effective therapeutic agent for cancer treatment as well as a potent carcinogen. Sensitivity to the cell-killing effects of radiation can vary across human population with a subset of individuals displaying extreme hypersensitivity, and is usually attributable to inherited defects in DNA damage response pathways. The present study was designed to elucidate the genetic basis of variation in hypersensitivity to radiation exposure through exome sequencing of radiosensitive individuals, with the ultimate goal of identifying genes with the most significant effects on cellular DNA damage responses. The study participants included subjects referred for clinical testing for Ataxia-telangiectasia (A-T), Nijmegen Breakage Syndrome (NBS) or Ligase IV Syndrome. These are rare, recessive genetic disorders and hypersensitivity to radiation exposure is a common phenotype among individuals affected by all the three disorders. The study participants... (for more see dbGaP study page.)

ORGANISM(S): Homo sapiens  

PROVIDER: phs001911 | dbGaP |


Dataset's files

Action DRS
GapExchange_phs001911.v1.p1.xml Xml
dbGaPEx2.1.5.xsd Other
Study_Report.phs001911.RADseq.v1.p1.MULTI.pdf Pdf
manifest_phs001911.RADseq.v1.p1.c1.HMB-NPU.pdf Pdf
datadict_v2.xsl Other
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