EGAGenomicsWhole Genome Sequencinghttps://ega-archive.org/studies/EGAS00001005321EGAEGA study EGAS00001005321Three large nuclear families in which a single child per family was diagnosed with cancerEGArestrictedpediatric tumor, cHILD, young adult, pediatric interstitial lung disease, gyltl1b-b, acetylglucosaminyltransferase-like protein, Mbp1, pediatric neoplasm, LARGE1, froggy, Gyltl1a., childhood neoplasm (disease), MDDGA6, CHILD, mKIAA0609, childhood neoplasm, interstitial lung disease of childhood, KIAA0609, myd, acetylglucosaminyltransferase-like 1A, child, fg, childhood tumor, childhood tumour, gyltl1b, like-acetylglucosaminyltransferase, ILD specific to childhood, MDDGB6, paediatric tumour, mdc1d, chILD syndrome, Mbp-1, LARGE, paediatric neoplasm (disease), Children, LARGE_HUMAN, paediatric interstitial lung disease, chILD, juvenile stage, BPFD#36, MDC1D, like-glycosyltransferase, enr, children's interstitial lung disease, childhood interstitial lung disease, pediatric neoplasm (disease), neoplasm (disease) of childhood, paediatric neoplasm, glycosyltransferase-like protein LARGE1Networks, pediatric tumor, Family Member, Kinship, young adult, embryonal nephroma, Bilateral Wilms, Neoplasms, Benign Neoplasm, Network, Germinoblastoma, Tumor, Nephroblastoma (disorder), Malignant, Wilms, Germinoblastic Sarcoma, pediatric neoplasm, Wilm Tumor, Malignant Lymphomas, CHILD, kidney Wilms tumour, Wilms tumour (nephroblastoma), Life Cycle, childhood neoplasm, Wilms', interstitial lung disease of childhood, Lymphomas, Family Life Cycle, Reticulolymphosarcoma, Wilms' Tumor, average, nonanaplastic renal Wilm's tumor, Sarcomas, childhood tumor, childhood tumour, Kinship Network, Bilateral, Malignancy, Genomes, Research, paediatric interstitial lung disease, chILD, Neoplasias, juvenile stage, Malignant Lymphoma, Sarcoma, kidney Wilms tumor, malignant neoplasm, Wilms' tumor, childhood interstitial lung disease, pediatric neoplasm (disease), Nephroblastoma (morphologic abnormality), neoplasm (disease) of childhood, Malignancies, paediatric neoplasm, Kinship Networks, Family Life Cycles, Family, SIMPLE, Nephroblastoma, Cancer, Tumors, cHILD, Malignant Neoplasm, pediatric interstitial lung disease, Family Research, Wilms Tumor 1, Arts, TP53I7., Wilms tumor (nephroblastoma), Wilms tumor, Cell, Family Members, renal Wilms tumor, read, Reticulolymphosarcomas, MT, Benign, childhood renal Wilms tumour, adult renal Wilms' tumour, childhood neoplasm (disease), PIG7, Neoplasm, Germinoblastic Sarcomas, Germinoblastic, Nephroblastomas, Nephroblastoma NOS, Wilm's Tumor, Filiation, child, primary cancer, nonanaplastic renal Wilm's tumour, Industrial, Industrial Arts, ILD specific to childhood, paediatric tumour, Wilms tumour, nephroblastoma, chILD syndrome, Benign Neoplasms, childhood renal Wilms' cancer, Cancers, MLYM, whole genome, Germinoblastomas, paediatric neoplasm (disease), Children, malignant tumor, Malignant Neoplasms, childhood renal Wilms tumor, Life Cycles, lymphoma, children's interstitial lung disease, Families, Lymphoma, Bilateral Wilms Tumor, Wilms Tumor, Relatives, Neoplasia, adult nephroblastoma, lymphoid cancerfalsePediatric tumor in a single child of three large nuclear familiesWe identify three nuclear families in which a pediatric tumor had been diagnosed in a single child and neither parent had been diagnosed with cancer. These families had 4, 5, and 7 children, respectively. Diagnoses included Wilms tumor, low-grade astrocytoma, and Burkitt’s lymphoma, respectively. We used whole-genome sequencing to profile normal cells from each family member and a linked-read technology for genomic phasing, which enabled us to identify compound-heterozygous and de novo variants in addition to simple-heterozygous and homozygous-alternate variants.2021-06-11 11:56:38EGAS000010053219606EGAD00001007709EGAC00001002130