Genome Landscapes of Disease: Strategies to Predict the Phenotypic Consequences of Human Germline and Somatic Variation
- PMID: 27536867
- PMCID: PMC4990343
- DOI: 10.1371/journal.pcbi.1005043
Genome Landscapes of Disease: Strategies to Predict the Phenotypic Consequences of Human Germline and Somatic Variation
Conflict of interest statement
The authors have declared that no competing interests exist.
Similar articles
-
Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma.Sci Rep. 2021 Mar 19;11(1):6408. doi: 10.1038/s41598-021-85354-8. Sci Rep. 2021. PMID: 33742045 Free PMC article.
-
Genome-wide association study of germline copy number variations reveals an association with prostate cancer aggressiveness.Mutagenesis. 2020 Jul 11;35(3):283-290. doi: 10.1093/mutage/geaa010. Mutagenesis. 2020. PMID: 32255470
-
A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal.PLoS Comput Biol. 2018 Feb 7;14(2):e1005965. doi: 10.1371/journal.pcbi.1005965. eCollection 2018 Feb. PLoS Comput Biol. 2018. PMID: 29415044 Free PMC article.
-
Allele-specific expression: applications in cancer and technical considerations.Curr Opin Genet Dev. 2021 Feb;66:10-19. doi: 10.1016/j.gde.2020.10.007. Epub 2020 Dec 28. Curr Opin Genet Dev. 2021. PMID: 33383480 Free PMC article. Review.
-
Clinical significance of germline copy number variation in susceptibility of human diseases.J Genet Genomics. 2018 Jan 20;45(1):3-12. doi: 10.1016/j.jgg.2018.01.001. Epub 2018 Jan 5. J Genet Genomics. 2018. PMID: 29396143 Review.
Cited by
-
Revealing Prognosis-Related Pathways at the Individual Level by a Comprehensive Analysis of Different Cancer Transcription Data.Genes (Basel). 2020 Oct 29;11(11):1281. doi: 10.3390/genes11111281. Genes (Basel). 2020. PMID: 33138076 Free PMC article.
-
Predicting pathogenicity of missense variants with weakly supervised regression.Hum Mutat. 2019 Sep;40(9):1579-1592. doi: 10.1002/humu.23826. Epub 2019 Aug 7. Hum Mutat. 2019. PMID: 31144781 Free PMC article.
-
Functional variomics and network perturbation: connecting genotype to phenotype in cancer.Nat Rev Genet. 2017 Jul;18(7):395-410. doi: 10.1038/nrg.2017.8. Epub 2017 Mar 27. Nat Rev Genet. 2017. PMID: 28344341 Free PMC article. Review.
-
VarChat: the generative AI assistant for the interpretation of human genomic variations.Bioinformatics. 2024 Mar 29;40(4):btae183. doi: 10.1093/bioinformatics/btae183. Bioinformatics. 2024. PMID: 38579245 Free PMC article.
Publication types
MeSH terms
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources