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TranscriptomicsDecoding NF1 intragenic copy number changes
Genomic rearrangements may cause both Mendelian and complex disorders. Currently, several major mechanisms causing genomic rearrangements have been proposed such as non-allelic homologous recombination (NAHR), non-homologous end joining (NHEJ), fork stalling and template switching (FoSTeS) and micro...
ORGANISM(S): Homo sapiens 
2015-07-30 | E-GEOD-64869 | biostudies-arrayexpress
Genomicsena-DATASET-JKUL-22-06-2017-13:28:22:098-263 - samples
We present targeted NGS panel data from 170 samples that were processed using the TruSightTM Cancer (TSC) panel (Illumina, San Diego, CA, USA), which targets 94 genes and 284 SNPs associated with a predisposition towards cancer. The samples are enriched for CNVs in the genes of interest. All CNVs ha...
EGAD00001003400 | EGA
GenomicsJKU and MUI Data Access Committee for targeted NGS panel data
Data Access Committee EGAC00001000669
EGAC00001000669 | EGA
GenomicsCNV detection in targeted NGS panel data
The aim of this study was to compare copy-number-variation (CNV) detection methods for targeted NGS panel data in a clinical diagnostic setting. We present targeted NGS panel data from 170 samples that were processed using the TruSight(TM) Cancer (TSC) panel (Illumina, San Diego, CA, USA), which tar...
EGAS00001002481 | EGA
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