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21 results

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Page 1
Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes.
Hsu JS, Kwan JS, Pan Z, Garcia-Barcelo MM, Sham PC, Li M. Hsu JS, et al. Bioinformatics. 2016 Oct 15;32(20):3065-3071. doi: 10.1093/bioinformatics/btw381. Epub 2016 Jun 26. Bioinformatics. 2016. PMID: 27354691
This inheritance mode-specific framework achieved higher accuracy (area under curve = 0.84) in XL mode. CONCLUSION: The inheritance-mode specific pathogenicity prioritization (ISPP) outperformed other well-known metho …
This inheritance mode-specific framework achieved higher accuracy (area under curve = 0.84) in XL mode. CONCLUSI …
Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative. COVID-19 Host Genetics Initiative. Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8. Nature. 2021. PMID: 34237774 Free PMC article.
Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-19(1,2), host genetics may also be important. Identifying host-specific genetic factors may reveal biological mechanisms of therapeutic relevan …
Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-19(1,2), h …
Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations.
Capalbo A, de Wert G, Mertes H, Klausner L, Coonen E, Spinella F, Van de Velde H, Viville S, Sermon K, Vermeulen N, Lencz T, Carmi S. Capalbo A, et al. Hum Reprod Update. 2024 Oct 1;30(5):529-557. doi: 10.1093/humupd/dmae012. Hum Reprod Update. 2024. PMID: 38805697 Free PMC article. Review.
Until recently, PGT was limited to detecting single-gene, high-risk pathogenic variants, large structural variants, and aneuploidy. Recent advances have made genome-wide genotyping of IVF embryos feasible and affordable, raising the possibility of screening embryos for the …
Until recently, PGT was limited to detecting single-gene, high-risk pathogenic variants, large structural variants, and aneuploidy. R …
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS, Roberts AM, Theotokis P, Walsh R, Ostrowski PJ, Edwards M, Fleming A, Thaxton C, Roberts JD, Care M, Zareba W, Adler A, Sturm AC, Tadros R, Novelli V, Owens E, Bronicki L, Jarinova O, Callewaert B, Peters S, Lumbers T, Jordan E, Asatryan B, Krishnan N, Hershberger RE, Chahal CAA, Landstrom AP, James C, McNally EM, Judge DP, van Tintelen P, Wilde A, Gollob M, Ingles J, Ware JS. Josephs KS, et al. Genome Med. 2023 Oct 23;15(1):86. doi: 10.1186/s13073-023-01246-8. Genome Med. 2023. PMID: 37872640 Free PMC article.
METHODS: We analyse evidence for inheritance patterns, allelic requirement, disease mechanism and disease-relevant variant classes for 65 ClinGen-curated ICC gene-disease pairs. ...RESULTS: For 36/65 gene-disease pairs, loss of function is not an established disease …
METHODS: We analyse evidence for inheritance patterns, allelic requirement, disease mechanism and disease-relevant variant cla …
MutationDistiller: user-driven identification of pathogenic DNA variants.
Hombach D, Schuelke M, Knierim E, Ehmke N, Schwarz JM, Fischer-Zirnsak B, Seelow D. Hombach D, et al. Nucleic Acids Res. 2019 Jul 2;47(W1):W114-W120. doi: 10.1093/nar/gkz330. Nucleic Acids Res. 2019. PMID: 31106342 Free PMC article.
MutationDistiller combines MutationTaster's pathogenicity predictions with a phenotype-based approach. Phenotypic information is not limited to symptoms included in the Human Phenotype Ontology (HPO), but may also comprise clinical diagnoses and the suspected mode o …
MutationDistiller combines MutationTaster's pathogenicity predictions with a phenotype-based approach. Phenotypic information is not …
Macular structural integrity estimates are associated with Parkinson's disease genetic risk.
Diaz-Torres S, Lee SS, Ogonowski NS, Mackey DA, MacGregor S, Gharahkhani P, Renteria ME. Diaz-Torres S, et al. Acta Neuropathol Commun. 2024 Aug 13;12(1):130. doi: 10.1186/s40478-024-01841-9. Acta Neuropathol Commun. 2024. PMID: 39135092 Free PMC article.
To evaluate the overlap between retinal integrity estimates and PD, we annotated and prioritised genes using mBAT-combo and performed colocalisation through the GWAS pairwise method and HyPrColoc. We used a multi-omic approach and single-cell expression data of the retina …
To evaluate the overlap between retinal integrity estimates and PD, we annotated and prioritised genes using mBAT-combo and performed …
Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.
Vermeer FC, Bremer J, Sietsma RJ, Sandilands A, Hickerson RP, Bolling MC, Pasmooij AMG, Lemmink HH, Swertz MA, Knoers NVAM, van der Velde KJ, van den Akker PC. Vermeer FC, et al. Int J Mol Sci. 2021 Nov 12;22(22):12222. doi: 10.3390/ijms222212222. Int J Mol Sci. 2021. PMID: 34830104 Free PMC article. Review.
The subtype and severity of EB is linked to the gene involved and the specific variants in that gene, which also determine its mode of inheritance. Current treatment is mainly focused on symptomatic relief such as wound care and blister prevention, because tr …
The subtype and severity of EB is linked to the gene involved and the specific variants in that gene, which also determine its mod …
Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.
Roca I, Fernández-Marmiesse A, Gouveia S, Segovia M, Couce ML. Roca I, et al. Int J Mol Sci. 2018 May 27;19(6):1584. doi: 10.3390/ijms19061584. Int J Mol Sci. 2018. PMID: 29861492 Free PMC article. Review.
This describes the type and location of mutations previously identified in the gene, and their association with different phenotypes or degrees of severity. The third is the mode of inheritance (inherited vs. de novo) of the variants detected. Here, we discuss the i …
This describes the type and location of mutations previously identified in the gene, and their association with different phenotypes or degr …
Improving the clinical interpretation of missense variants in X linked genes using structural analysis.
Sallah SR, Ellingford JM, Sergouniotis PI, Ramsden SC, Lench N, Lovell SC, Black GC. Sallah SR, et al. J Med Genet. 2022 Apr;59(4):385-392. doi: 10.1136/jmedgenet-2020-107404. Epub 2021 Mar 25. J Med Genet. 2022. PMID: 33766936 Free PMC article.
We also determined gene-specific pathogenicity thresholds that improved the performance of VEST4, REVEL and ClinPred, the three best-performing tools out of the seven that were evaluated; this was the case in 11, 11 and 12 different genes, respectively. ...In additi …
We also determined gene-specific pathogenicity thresholds that improved the performance of VEST4, REVEL and ClinPred, the thre …
Gene-based association analysis identifies 190 genes affecting neuroticism.
Belonogova NM, Zorkoltseva IV, Tsepilov YA, Axenovich TI. Belonogova NM, et al. Sci Rep. 2021 Jan 28;11(1):2484. doi: 10.1038/s41598-021-82123-5. Sci Rep. 2021. PMID: 33510330 Free PMC article.
Many genes in the former group included potentially pathogenic variants. For some genes in the latter group, we found evidence of pleiotropy with gene expression. Using a bioinformatics analysis, we prioritized the neuroticism genes and showed that the genes that co …
Many genes in the former group included potentially pathogenic variants. For some genes in the latter group, we found evidence of ple …
21 results