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CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.
(NATURE PUBLISHING GROUP, 2018-10-01)
PURPOSE: Internationally adopted variant interpretation guidelines from the American College of Medical Genetics and Genomics (ACMG) are generic and require disease-specific refinement. Here we developed CardioClassifier ...
Spatially constrained tumour growth affects the patterns of clonal selection and neutral drift in cancer genomic data.
(PUBLIC LIBRARY SCIENCE, 2019-07-29)
Quantification of the effect of spatial tumour sampling on the patterns of mutations detected in next-generation sequencing data is largely lacking. Here we use a spatial stochastic cellular automaton model of tumour growth ...
A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1.
(NATURE PUBLISHING GROUP, 2017-03-01)
Genome-wide association studies (GWASs) have shown that common genetic variation contributes to the heritable risk of childhood acute lymphoblastic leukemia (ALL). To identify new susceptibility loci for the largest subtype ...
MicroRNA and gene co-expression networks characterize biological and clinical behavior of rhabdomyosarcomas.
(ELSEVIER IRELAND LTD, 2017-01-28)
Rhabdomyosarcomas (RMS) in children and adolescents are heterogeneous sarcomas broadly defined by skeletal muscle features and the presence/absence of PAX3/7-FOXO1 fusion genes. MicroRNAs are small non-coding RNAs that ...
Variation of mutational burden in healthy human tissues suggests non-random strand segregation and allows measuring somatic mutation rates.
(PUBLIC LIBRARY SCIENCE, 2018-06-07)
The immortal strand hypothesis poses that stem cells could produce differentiated progeny while conserving the original template strand, thus avoiding accumulating somatic mutations. However, quantitating the extent of ...
Promoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer.
(NATURE PUBLISHING GROUP, 2018-10-01)
Efforts are being directed to systematically analyze the non-coding regions of the genome for cancer-driving mutations1-6. cis-regulatory elements (CREs) represent a highly enriched subset of the non-coding regions of the ...