المؤلفون: Brandes, Nadav^Aff13, Linial, Nathan^Aff13, Linial, Michal^Aff14

المساهمون: Goos, Gerhard, Founding Editor^Aff1, Hartmanis, Juris, Founding Editor^Aff2, Bertino, Elisa, Editorial Board Member^Aff3, Gao, Wen, Editorial Board Member^Aff4, Steffen, Bernhard, Editorial Board Member^Aff5, Woeginger, Gerhard, Editorial Board Member^Aff6, Yung, Moti, Editorial Board Member^Aff7, Cai, Zhipeng, editor^Aff8, Mandoiu, Ion, editor^Aff9, Narasimhan, Giri, editor^Aff10, Skums, Pavel, editor^Aff11, Guo, Xuan, editor^Aff12

المصدر: Bioinformatics Research and Applications : 16th International Symposium, ISBRA 2020, Moscow, Russia, December 1–4, 2020, Proceedings. 12304:119-126

المؤلفون: Pâmella Borges, Gabriela Pasqualim, Roberto Giugliani, Filippo Vairo, Ursula Matte

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)

مصطلحات موضوعية: Mucopolysaccharidoses (MPS), Estimated prevalence, Exome aggregation consortium (ExAC), Genome aggregation database (gnomAD), In silico analysis, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01608-0; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/1c12f9b1c4f54d9d98be953a87b012c7

المؤلفون: Brian Thompson, Nicholas Katsanis, Nicholas Apostolopoulos, David C. Thompson, Daniel W. Nebert, Vasilis Vasiliou

المصدر: Human Genomics, Vol 13, Iss 1, Pp 1-15 (2019)

مصطلحات موضوعية: Retinoic Acid, Eye Development, gnomAD, ExAC, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/f308f0d3cc834174ba2f7357e68fa7f9

المؤلفون: Borges, Pâmella^{Aff1, Aff2, Aff3}, Pasqualim, Gabriela, Giugliani, Roberto^{Aff3, Aff5, Aff6}, Vairo, Filippo^{Aff7, Aff8}, Matte, Ursula^{Aff1, Aff2, Aff3, Aff5}

المصدر: Orphanet Journal of Rare Diseases. 15(1)

المؤلفون: Thompson, Brian, Katsanis, Nicholas^{Aff2, Aff3}, Apostolopoulos, Nicholas, Thompson, David C., Nebert, Daniel W., Vasiliou, Vasilis^Aff1

المصدر: Human Genomics. 13(1)

المؤلفون: Henry J. Martell, Kathie A. Wong, Juan F. Martin, Ziyan Kassam, Kay Thomas, Mark N. Wass

المصدر: BMC Genomics, Vol 18, Iss S5, Pp 47-64 (2017)

مصطلحات موضوعية: Cystinuria, Structural modelling, Computational predictions, Personalised medicine, ExAC, Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12864-017-3913-1; https://doaj.org/toc/1471-2164

URL الوصول: https://doaj.org/article/71c1d6b1ed034c839d8bcd01fa0ee451

المؤلفون: Anna D. Cunningham, Alexandre Colavin, Kerwyn Casey Huang, Daria Mochly-Rosen

المصدر: Cell Reports, Vol 18, Iss 11, Pp 2592-2599 (2017)

مصطلحات موضوعية: G6PD, G6PD deficiency, enzymopathy, missense variants, ExAC database, PCA, variants of unknown significance, VUS, protein stability, enzyme activity, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124717302462; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/9fbe5673bfb84a87893e44ff61f61046

المؤلفون: Alyssa Florwick, Tejas Dharmaraj, Julie Jurgens, David Valle, Katherine L. Wilson

المصدر: Frontiers in Genetics, Vol 8 (2017)

مصطلحات موضوعية: ExAC, dilated cardiomyopathy, progeria, type 2 diabetes, FPLD2, metabolic syndrome, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fgene.2017.00079/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/c08be1e98a3047f3924818498a741481

المؤلفون: Yi-Heng Zhu, Jian Xu Data, Fang Ge, Dong-Jun Yu, Arif Muhammad, Jiangning Song

المصدر: Computational and Structural Biotechnology Journal, Vol 19, Iss, Pp 6400-6416 (2021)
Computational and Structural Biotechnology Journal

مصطلحات موضوعية: Pred-MutHTP, prediction of mutations in human transmembrane proteins, fathmm, functional analysis through hidden markov models, 1000 Genomes, 1000 genomes project consortium, Computer science, SNAP, screening for non-acceptable polymorphisms, Condel, consensus deleteriousness score of missense mutations, ClinVar, clinical variants, medicine.disease_cause, Biochemistry, PROVEAN, protein variation effect analyzer, Structural Biology, Entprise, entropy and predicted protein structure, Feature (machine learning), Missense mutation, SwissVar, variants in UniProtKB/Swiss-Prot, REVEL, rare exome variant ensemble learner, Mutation, Cascade XGBoost, Transmembrane protein, Computer Science Applications, TMSNP, transmembrane single nucleotide polymorphisms, APOGEE, pathogenicity prediction through the logistic model tree, Cascade, New mutation, Research Article, Biotechnology, PolyPhen-2, polymorphism phenotyping v2, Mutation prediction, PredictSNP1, predict single nucleotide polymorphism v1, Biophysics, COSMIC, catalogue of somatic mutations in cancer, Computational biology, SDM, site-directed mutate, Encoding (memory), Classifier (linguistics), Genetics, medicine, ComputingMethodologies_COMPUTERGRAPHICS, PolyPhen, polymorphism phenotyping, Protein evolutionary information, BorodaTM, boosted regression trees for disease-associated mutations in transmembrane proteins, humsavar, human polymorphisms and disease mutations, SIFT, sorting intolerant from tolerant, ExAC, the exome aggregation consortium, WEKA, waikato environment for knowledge analysis, SNP&GO, single nucleotide polymorphisms and gene ontology annotations, Meta-SNP, meta single nucleotide polymorphism, Disease-associated mutations, TP248.13-248.65

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ab4583865fc088881c6f516bb043a13
http://www.sciencedirect.com/science/article/pii/S200103702100489X

المؤلفون: Gabriela Pasqualim, Ursula da Silveira Matte, Filippo Vairo, Roberto Giugliani, Pâmella Borges

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Mucopolysaccharidoses (MPS), Mucopolysaccharidosis I, Population, lcsh:Medicine, Biology, In silico analysis, Frameshift mutation, Prevalence, Humans, Missense mutation, Estimated prevalence, Exome, Pharmacology (medical), Indel, education, Allele frequency, Genetics (clinical), Exome sequencing, Genetics, education.field_of_study, Research, lcsh:R, General Medicine, Mucopolysaccharidoses, Exome aggregation consortium (ExAC), Human genetics, Mutation, Genome aggregation database (gnomAD)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29de17a66a6fbf093ca2b48b54d3ffa6
http://link.springer.com/article/10.1186/s13023-020-01608-0