{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T01:27:26Z","timestamp":1780622846589,"version":"3.54.1"},"reference-count":55,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"name":"Shen-zhen Science and Technology Innovation Committee, China","award":["JCYJ20220530164600002"],"award-info":[{"award-number":["JCYJ20220530164600002"]}]},{"name":"Shen-zhen Science and Technology Innovation Committee, China","award":["JCYJ20220530164601003"],"award-info":[{"award-number":["JCYJ20220530164601003"]}]},{"DOI":"10.13039\/501100004735","name":"Hunan Provincial Natural Science Foundation of China","doi-asserted-by":"crossref","award":["2023JJ70007"],"award-info":[{"award-number":["2023JJ70007"]}],"id":[{"id":"10.13039\/501100004735","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Scientific Research Program of Xiangjiang Philanthropy Foundation"},{"name":"National Key Research and Development Program of China","award":["No.2020YFC2008205"],"award-info":[{"award-number":["No.2020YFC2008205"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["No. 82171058"],"award-info":[{"award-number":["No. 82171058"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Key R&D Plan of Hunan Province of China","award":["No.2020SK2076"],"award-info":[{"award-number":["No.2020SK2076"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum. Genet."],"published-print":{"date-parts":[[2024,3]]},"DOI":"10.1007\/s00439-024-02645-6","type":"journal-article","created":{"date-parts":[[2024,3,13]],"date-time":"2024-03-13T16:56:35Z","timestamp":1710348995000},"page":"331-342","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner"],"prefix":"10.1007","volume":"143","author":[{"given":"Bing","family":"Zeng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong Cheng","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian Guo","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao Bo","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Qin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,3,13]]},"reference":[{"key":"2645_CR1","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1038\/s41588-019-0560-2","volume":"52","author":"N Abramovs","year":"2020","unstructured":"Abramovs N, Brass A, Tassabehji M (2020) GeVIR is a continuous gene-level metric that uses variant distribution patterns to prioritize disease candidate genes. Nat Genet 52:35\u201339. https:\/\/doi.org\/10.1038\/s41588-019-0560-2","journal-title":"Nat Genet"},{"key":"2645_CR2","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248\u2013249. https:\/\/doi.org\/10.1038\/nmeth0410-248","journal-title":"Nat Methods"},{"key":"2645_CR3","doi-asserted-by":"publisher","first-page":"474","DOI":"10.1016\/j.ajhg.2018.08.005","volume":"103","author":"N Alirezaie","year":"2018","unstructured":"Alirezaie N, Kernohan KD, Hartley T et al (2018) ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants. Am J Hum Genet 103:474\u2013483. https:\/\/doi.org\/10.1016\/j.ajhg.2018.08.005","journal-title":"Am J Hum Genet"},{"key":"2645_CR4","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/cpbi.27.Searching","volume":"58","author":"JS Amberger","year":"2018","unstructured":"Amberger JS, Hamosh A (2018) Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes. Curr Protoc Bioinforma 58:1\u201320. https:\/\/doi.org\/10.1002\/cpbi.27.Searching","journal-title":"Curr Protoc Bioinforma"},{"key":"2645_CR5","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1038\/nature15393","volume":"526","author":"A Auton","year":"2015","unstructured":"Auton A, Abecasis GR, Altshuler DM et al (2015) A global reference for human genetic variation. Nature 526:68\u201374. https:\/\/doi.org\/10.1038\/nature15393","journal-title":"Nature"},{"key":"2645_CR6","doi-asserted-by":"publisher","first-page":"D506","DOI":"10.1093\/nar\/gky1049","volume":"47","author":"A Bateman","year":"2019","unstructured":"Bateman A (2019) UniProt: A worldwide hub of protein knowledge. Nucleic Acids Res 47:D506\u2013D515. https:\/\/doi.org\/10.1093\/nar\/gky1049","journal-title":"Nucleic Acids Res"},{"key":"2645_CR7","first-page":"129","volume":"9","author":"SJ Bowne","year":"2003","unstructured":"Bowne SJ, Daiger SP, Malone KA et al (2003) Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. Mol vis 9:129\u2013137","journal-title":"Mol vis"},{"key":"2645_CR8","doi-asserted-by":"publisher","first-page":"1512","DOI":"10.1038\/s41588-023-01465-0","volume":"55","author":"N Brandes","year":"2023","unstructured":"Brandes N, Goldman G, Wang CH et al (2023) Genome-wide prediction of disease variant effects with a deep protein language model. Nat Genet 55:1512\u20131522. https:\/\/doi.org\/10.1038\/s41588-023-01465-0","journal-title":"Nat Genet"},{"key":"2645_CR9","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1007\/s00439-022-02440-1","volume":"141","author":"F Bu","year":"2022","unstructured":"Bu F, Zhong M, Chen Q et al (2022) DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss. Hum Genet 141:401\u2013411. https:\/\/doi.org\/10.1007\/s00439-022-02440-1","journal-title":"Hum Genet"},{"key":"2645_CR10","doi-asserted-by":"publisher","DOI":"10.1038\/s41422-020-0322-9","author":"Y Cao","year":"2020","unstructured":"Cao Y, Li L, Xu M et al (2020) The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals. Cell Res. https:\/\/doi.org\/10.1038\/s41422-020-0322-9","journal-title":"Cell Res"},{"key":"2645_CR11","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1016\/j.ajhg.2016.12.003","volume":"100","author":"KJ Carss","year":"2017","unstructured":"Carss KJ, Arno G, Erwood M et al (2017) Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. Am J Hum Genet 100:75\u201390. https:\/\/doi.org\/10.1016\/j.ajhg.2016.12.003","journal-title":"Am J Hum Genet"},{"key":"2645_CR12","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41525-021-00180-1","volume":"6","author":"TC Chen","year":"2021","unstructured":"Chen TC, Huang DS, Lin CW et al (2021) Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan. Npj Genomic Med 6:1\u20138. https:\/\/doi.org\/10.1038\/s41525-021-00180-1","journal-title":"Npj Genomic Med"},{"key":"2645_CR13","doi-asserted-by":"publisher","first-page":"970","DOI":"10.1093\/bib\/bbz047","volume":"21","author":"N Cheng","year":"2020","unstructured":"Cheng N, Li M, Zhao L et al (2020) Comparison and integration of computational methods for deleterious synonymous mutation prediction. Brief Bioinform 21:970\u2013981. https:\/\/doi.org\/10.1093\/bib\/bbz047","journal-title":"Brief Bioinform"},{"key":"2645_CR14","first-page":"1","volume":"7492","author":"J Cheng","year":"2023","unstructured":"Cheng J, Novati G, Pan J et al (2023) Accurate proteome-wide missense variant effect prediction with AlphaMissense. Science (-80) 7492:1\u201318","journal-title":"Science (-80)"},{"key":"2645_CR15","doi-asserted-by":"publisher","first-page":"400","DOI":"10.1002\/humu.23165","volume":"38","author":"SS Cornelis","year":"2017","unstructured":"Cornelis SS, Bax NM, Zernant J et al (2017) In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases. Hum Mutat 38:400\u2013408. https:\/\/doi.org\/10.1002\/humu.23165","journal-title":"Hum Mutat"},{"key":"2645_CR16","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1002\/humu.20093","volume":"24","author":"AI Den Hollander","year":"2004","unstructured":"Den Hollander AI, Davis J, Van Der Velde-Visser SD et al (2004) CRB1 mutation spectrum in inherited retinal dystrophies. Hum Mutat 24:355\u2013369. https:\/\/doi.org\/10.1002\/humu.20093","journal-title":"Hum Mutat"},{"key":"2645_CR17","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1136\/jmedgenet-2016-103837","volume":"53","author":"JM Ellingford","year":"2016","unstructured":"Ellingford JM, Barton S, Bhaskar S et al (2016) Molecular findings from 537 individuals with inherited retinal disease. J Med Genet 53:761\u2013767. https:\/\/doi.org\/10.1136\/jmedgenet-2016-103837","journal-title":"J Med Genet"},{"key":"2645_CR18","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1093\/bioinformatics\/btv602","volume":"33","author":"J Fadista","year":"2017","unstructured":"Fadista J, Oskolkov N, Hansson O, Groop L (2017) LoFtool: A gene intolerance score based on loss-of-function variants in 60 706 individuals. Bioinformatics 33:471\u2013474. https:\/\/doi.org\/10.1093\/bioinformatics\/btv602","journal-title":"Bioinformatics"},{"key":"2645_CR19","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1093\/bib\/bbac176","volume":"23","author":"M Fang","year":"2022","unstructured":"Fang M, Su Z, Abolhassani H et al (2022) VIPPID: A gene-specific single nucleotide variant pathogenicity prediction tool for primary immunodeficiency diseases. Brief Bioinform 23:1\u201310. https:\/\/doi.org\/10.1093\/bib\/bbac176","journal-title":"Brief Bioinform"},{"key":"2645_CR20","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1038\/s41586-021-04043-8","volume":"599","author":"J Frazer","year":"2021","unstructured":"Frazer J, Notin P, Dias M et al (2021) Disease variant prediction with deep generative models of evolutionary data. Nature 599:91\u201395. https:\/\/doi.org\/10.1038\/s41586-021-04043-8","journal-title":"Nature"},{"key":"2645_CR21","doi-asserted-by":"publisher","first-page":"846","DOI":"10.1136\/bjophthalmol-2019-314679","volume":"104","author":"FJ Gao","year":"2020","unstructured":"Gao FJ, Gao FJ, Gao FJ et al (2020) Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy. Br J Ophthalmol 104:846\u2013851. https:\/\/doi.org\/10.1136\/bjophthalmol-2019-314679","journal-title":"Br J Ophthalmol"},{"key":"2645_CR22","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1002\/humu.22768","volume":"36","author":"DG Grimm","year":"2015","unstructured":"Grimm DG, Azencott CA, Aicheler F et al (2015) The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity. Hum Mutat 36:513\u2013523. https:\/\/doi.org\/10.1002\/humu.22768","journal-title":"Hum Mutat"},{"key":"2645_CR23","doi-asserted-by":"publisher","first-page":"2710","DOI":"10.1073\/pnas.1913179117","volume":"117","author":"M Hanany","year":"2020","unstructured":"Hanany M, Rivolta C, Sharon D (2020) Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases. Proc Natl Acad Sci U S A 117:2710\u20132716. https:\/\/doi.org\/10.1073\/pnas.1913179117","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2645_CR24","doi-asserted-by":"publisher","first-page":"903","DOI":"10.1007\/s00439-022-02431-2","volume":"141","author":"US Ichi","year":"2022","unstructured":"Ichi US, Isaka Y, Miyagawa M, Ya NS (2022) Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss. Hum Genet 141:903\u2013914. https:\/\/doi.org\/10.1007\/s00439-022-02431-2","journal-title":"Hum Genet"},{"key":"2645_CR25","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","volume":"99","author":"NM Ioannidis","year":"2016","unstructured":"Ioannidis NM, Rothstein JH, Pejaver V et al (2016) REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants. Am J Hum Genet 99:877\u2013885. https:\/\/doi.org\/10.1016\/j.ajhg.2016.08.016","journal-title":"Am J Hum Genet"},{"key":"2645_CR26","doi-asserted-by":"publisher","first-page":"1581","DOI":"10.1038\/ng.3703","volume":"48","author":"KA Jagadeesh","year":"2016","unstructured":"Jagadeesh KA, Wenger AM, Berger MJ et al (2016) M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. Nat Genet 48:1581\u20131586. https:\/\/doi.org\/10.1038\/ng.3703","journal-title":"Nat Genet"},{"key":"2645_CR27","unstructured":"Jiang T, Wang K, Fang L (2021) MutFormer: A context-dependent transformer-based model to predict pathogenic missense mutations. arXiv"},{"key":"2645_CR28","doi-asserted-by":"publisher","first-page":"D840","DOI":"10.1093\/nar\/gkw971","volume":"45","author":"KJ Karczewski","year":"2017","unstructured":"Karczewski KJ, Weisburd B, Thomas B et al (2017) The ExAC browser: Displaying reference data information from over 60 000 exomes. Nucleic Acids Res 45:D840\u2013D845. https:\/\/doi.org\/10.1093\/nar\/gkw971","journal-title":"Nucleic Acids Res"},{"key":"2645_CR29","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1038\/nprot.2009.86","volume":"4","author":"P Kumar","year":"2009","unstructured":"Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4:1073\u20131082. https:\/\/doi.org\/10.1038\/nprot.2009.86","journal-title":"Nat Protoc"},{"key":"2645_CR30","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2023.100862","author":"M Kumaran","year":"2023","unstructured":"Kumaran M, Devarajan B (2023) eyeVarP: a computational framework for the identification of pathogenic variants specific to eye disease. Genet Med. https:\/\/doi.org\/10.1016\/j.gim.2023.100862","journal-title":"Genet Med"},{"key":"2645_CR31","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/ng.3511.An","volume":"2","author":"AR Kwilas","year":"2015","unstructured":"Kwilas AR, Donahue RN, Tsang KY, Hodge JW (2015) An expanded sequence context model broadly explains variability in polymorphism levels across the human genome. Cancer Cell 2:1\u201317. https:\/\/doi.org\/10.1038\/ng.3511.An","journal-title":"Cancer Cell"},{"key":"2645_CR32","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13023-021-02145-0","volume":"16","author":"BL Lam","year":"2021","unstructured":"Lam BL, Leroy BP, Black G et al (2021) Genetic testing and diagnosis of inherited retinal diseases. Orphanet J Rare Dis 16:1\u20139. https:\/\/doi.org\/10.1186\/s13023-021-02145-0","journal-title":"Orphanet J Rare Dis"},{"key":"2645_CR33","doi-asserted-by":"publisher","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","volume":"46","author":"MJ Landrum","year":"2018","unstructured":"Landrum MJ, Lee JM, Benson M et al (2018) ClinVar: Improving access to variant interpretations and supporting evidence. Nucleic Acids Res 46:D1062\u2013D1067. https:\/\/doi.org\/10.1093\/nar\/gkx1153","journal-title":"Nucleic Acids Res"},{"key":"2645_CR34","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","volume":"536","author":"M Lek","year":"2016","unstructured":"Lek M, Karczewski KJ, Minikel EV et al (2016) Analysis of protein-coding genetic variation in 60,706 humans. Nature 536:285\u2013291. https:\/\/doi.org\/10.1038\/nature19057","journal-title":"Nature"},{"key":"2645_CR35","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0104452","author":"Q Li","year":"2014","unstructured":"Li Q, Liu X, Gibbs RA et al (2014) Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes. PLoS ONE. https:\/\/doi.org\/10.1371\/journal.pone.0104452","journal-title":"PLoS ONE"},{"key":"2645_CR36","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13073-020-00775-w","volume":"12","author":"S Li","year":"2020","unstructured":"Li S, Van Der Velde KJ, De Ridder D et al (2020) CAPICE: A computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations. Genome Med 12:1\u201311. https:\/\/doi.org\/10.1186\/s13073-020-00775-w","journal-title":"Genome Med"},{"key":"2645_CR37","doi-asserted-by":"publisher","DOI":"10.2139\/ssrn.3586993","author":"H-K Liu","year":"2020","unstructured":"Liu H-K, Dang X, Guan L-P et al (2020a) A Phenotype-Specific Framework for Identifying the Eye Abnormalities Causative Nonsynonymous-Variants. SSRN Electron J. https:\/\/doi.org\/10.2139\/ssrn.3586993","journal-title":"SSRN Electron J"},{"key":"2645_CR38","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13073-020-00803-9","volume":"12","author":"X Liu","year":"2020","unstructured":"Liu X, Li C, Mou C et al (2020b) dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs. Genome Med 12:1\u20138. https:\/\/doi.org\/10.1186\/s13073-020-00803-9","journal-title":"Genome Med"},{"key":"2645_CR39","doi-asserted-by":"publisher","first-page":"5163","DOI":"10.1093\/bioinformatics\/btz442","volume":"35","author":"J Luo","year":"2019","unstructured":"Luo J, Zhou T, You X et al (2019) Assessing concordance among human, in silico predictions and functional assays on genetic variant classification. Bioinformatics 35:5163\u20135170. https:\/\/doi.org\/10.1093\/bioinformatics\/btz442","journal-title":"Bioinformatics"},{"key":"2645_CR40","doi-asserted-by":"publisher","first-page":"235","DOI":"10.2147\/TACG.S197205","volume":"12","author":"R Nenna","year":"2019","unstructured":"Nenna R, Turchetti A, Mastrogiorgio G, Midulla F (2019) COL2A1 gene mutations: Mechanisms of spondyloepiphyseal dysplasia congenita. Appl Clin Genet 12:235\u2013238. https:\/\/doi.org\/10.2147\/TACG.S197205","journal-title":"Appl Clin Genet"},{"key":"2645_CR41","doi-asserted-by":"publisher","first-page":"510","DOI":"10.1038\/s41467-020-20847-0","volume":"12","author":"H Qi","year":"2021","unstructured":"Qi H, Zhang H, Zhao Y et al (2021) MVP predicts the pathogenicity of missense variants by deep learning. Nat Commun 12:510. https:\/\/doi.org\/10.1038\/s41467-020-20847-0","journal-title":"Nat Commun"},{"key":"2645_CR42","doi-asserted-by":"publisher","first-page":"D886","DOI":"10.1093\/nar\/gky1016","volume":"47","author":"P Rentzsch","year":"2019","unstructured":"Rentzsch P, Witten D, Cooper GM et al (2019) CADD: Predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Res 47:D886\u2013D894. https:\/\/doi.org\/10.1093\/nar\/gky1016","journal-title":"Nucleic Acids Res"},{"key":"2645_CR43","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405\u2013423. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"2645_CR44","doi-asserted-by":"publisher","first-page":"944","DOI":"10.1038\/ng.3050.A","volume":"46","author":"KE Samocha","year":"2014","unstructured":"Samocha KE, Robinson EB, Sanders SJ et al (2014) A framework for the interpretation of de novo mutation in human disease. Nat Genet 46:944\u2013950. https:\/\/doi.org\/10.1038\/ng.3050.A","journal-title":"Nat Genet"},{"key":"2645_CR45","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1002\/humu.22727","volume":"36","author":"GCP Schaafsma","year":"2015","unstructured":"Schaafsma GCP, Vihinen M (2015) VariSNP, A benchmark database for variations from dbSNP. Hum Mutat 36:161\u2013166. https:\/\/doi.org\/10.1002\/humu.22727","journal-title":"Hum Mutat"},{"key":"2645_CR46","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1002\/humu.22225","volume":"34","author":"HA Shihab","year":"2013","unstructured":"Shihab HA, Gough J, Cooper DN et al (2013) Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models. Hum Mutat 34:57\u201365. https:\/\/doi.org\/10.1002\/humu.22225","journal-title":"Hum Mutat"},{"key":"2645_CR47","doi-asserted-by":"publisher","first-page":"2004","DOI":"10.1038\/nprot.2015.124.Next-generation","volume":"10","author":"D Smedley","year":"2015","unstructured":"Smedley D, Jacobsen JOB, Jager M et al (2015) Next-generation diagnostics and disease-gene discovery with the Exomiser. Nat Protoc 10:2004\u20132015. https:\/\/doi.org\/10.1038\/nprot.2015.124.Next-generation","journal-title":"Nat Protoc"},{"key":"2645_CR48","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1007\/s00439-017-1779-6","volume":"136","author":"PD Stenson","year":"2017","unstructured":"Stenson PD, Mort M, Ball EV et al (2017) The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Hum Genet 136:665\u2013677. https:\/\/doi.org\/10.1007\/s00439-017-1779-6","journal-title":"Hum Genet"},{"key":"2645_CR49","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-8-25","author":"C Strobl","year":"2007","unstructured":"Strobl C, Boulesteix AL, Zeileis A, Hothorn T (2007) Bias in random forest variable importance measures: Illustrations, sources and a solution. BMC Bioinform. https:\/\/doi.org\/10.1186\/1471-2105-8-25","journal-title":"BMC Bioinform"},{"key":"2645_CR50","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3389\/fnagi.2022.948279","volume":"14","author":"BN Su","year":"2022","unstructured":"Su BN, Shen RJ, Liu ZL et al (2022) Global spectrum of USH2A mutation in inherited retinal dystrophies: Prompt message for development of base editing therapy. Front Aging Neurosci 14:1\u201311. https:\/\/doi.org\/10.3389\/fnagi.2022.948279","journal-title":"Front Aging Neurosci"},{"key":"2645_CR51","doi-asserted-by":"publisher","first-page":"1161","DOI":"10.1038\/s41588-018-0167-z","volume":"50","author":"L Sundaram","year":"2018","unstructured":"Sundaram L, Gao H, Padigepati SR et al (2018) Predicting the clinical impact of human mutation with deep neural networks. Nat Genet 50:1161\u20131170. https:\/\/doi.org\/10.1038\/s41588-018-0167-z","journal-title":"Nat Genet"},{"key":"2645_CR52","doi-asserted-by":"publisher","DOI":"10.1016\/j.gpb.2022.07.005","author":"SY Tong","year":"2023","unstructured":"Tong SY, Fan K, Zhou ZW et al (2023) mvPPT: A Highly Efficient and Sensitive Pathogenicity Prediction Tool for Missense Variants. Genomics, Proteomics Bioinforma. https:\/\/doi.org\/10.1016\/j.gpb.2022.07.005","journal-title":"Genomics, Proteomics Bioinforma"},{"key":"2645_CR53","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/1755-8794-7-22","volume":"7","author":"YJ Trakadis","year":"2014","unstructured":"Trakadis YJ, Buote C, Therriault JF et al (2014) PhenoVar: A phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes. BMC Med Genomics 7:1\u201313. https:\/\/doi.org\/10.1186\/1755-8794-7-22","journal-title":"BMC Med Genomics"},{"key":"2645_CR54","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1093\/nar\/gkq603","volume":"38","author":"K Wang","year":"2010","unstructured":"Wang K, Li M, Hakonarson H (2010) ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38:1\u20137. https:\/\/doi.org\/10.1093\/nar\/gkq603","journal-title":"Nucleic Acids Res"},{"key":"2645_CR55","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1038\/s41436-020-00972-3","volume":"23","author":"X Zhang","year":"2021","unstructured":"Zhang X, Walsh R, Whiffin N et al (2021) Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions. Genet Med 23:69\u201379. https:\/\/doi.org\/10.1038\/s41436-020-00972-3","journal-title":"Genet Med"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-024-02645-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00439-024-02645-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-024-02645-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,24]],"date-time":"2024-04-24T05:05:36Z","timestamp":1713935136000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00439-024-02645-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3]]},"references-count":55,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["2645"],"URL":"https:\/\/doi.org\/10.1007\/s00439-024-02645-6","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3]]},"assertion":[{"value":"7 November 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 January 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 March 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have not disclosed any competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}