Search Results - "Variant interpretation"

Utilizing Tree-Based Algorithms for Genetic Variant Interpretation

Erturk, Rumeysa Aslihan, Baysan, Mehmet

2024 9th International Conference on Computer Science and Engineering (UBMK)

The Challenge of VUS in Inherited Retinal Degeneration: Insight from Functional Studies

Finnegan, Laura K.^Aff14, Ridgeway, Anna R.^Aff14, Chadderton, Naomi^Aff14, Farrar, G. Jane^Aff14

Dong, Haidong, Series Editor^Aff1, Radeke, Heinfried H., Series Editor^Aff2, Rezaei, Nima, Series Editor^Aff3, Steinlein, Ortrud, Series Editor^Aff4, Xiao, Junjie, Series Editor^Aff5, Rosenhouse-Dantsker, Avia, Series Editor^Aff6, Gerlai, Robert, Series Editor^Aff7, Bowes Rickman, Catherine, editor^Aff8, Grimm, Christian, editor^Aff9, Anderson, Robert E., editor^Aff10, Ash, John D., editor^Aff11, Pierce, Eric, editor^Aff12, Hollyfield, Joe G., editor^Aff13

Tissue-aware interpretation of genetic variants advances the etiology of rare diseases

Argov, Chanan M, Shneyour, Ariel, Jubran, Juman, Sabag, Eric, Mansbach, Avigdor, Sepunaru, Yair, Filtzer, Emmi, Gruber, Gil, Volozhinsky, Miri, Yogev, Yuval, Birk, Ohad^{Aff2, Aff3}, Chalifa-Caspi, Vered, Rokach, Lior, Yeger-Lotem, Esti^{Aff1, Aff3, IDs44320024000616_cor14}

Identification and Analysis of Genes Associated with Inherited Retinal Diseases

Khan, Mubeen^Aff1, Fadaie, Zeinab^Aff1, Cornelis, Stéphanie S.^Aff1, Cremers, Frans P. M.^Aff1, Roosing, Susanne^Aff1

Weber, Bernhard H. F.^Aff12, Langmann, Thomas^Aff13, Walker, John M.^Aff11

Specification of variant interpretation guidelines for inherited retinal dystrophy in Japan

Fujinami, Kaoru, Nishiguchi, Koji M^{Aff2, IDs10384024010635_cor2}, Oishi, Akio, Akiyama, Masato, Ikeda, Yasuhiro

Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria

Frohne, Alexandra^{Aff1, Aff2}, Vrabel, Sybille, Laccone, Franco, Neesen, Juergen, Roesch, Sebastian, Dossena, Silvia, Schoefer, Christian, Frei, Klemens^{Aff1, Aff6}, Parzefall, Thomas^{Aff1, IDs00405024084925_cor9}

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel

A. Drackley, C. Somerville, P. Arnaud, L. M. Baudhuin, N. Hanna, M. L. Kluge, K. Kotzer, C. Boileau, L. Bronicki, B. Callewaert, A. Cecchi, H. Dietz, D. Guo, S. Harris, O. Jarinova, M. Lindsay, L. Little, B. Loeys, G. MacCarrick, J. Meester, D. Milewicz, T. Morisaki, H. Morisaki, D. Murdock, M. Renard, J. Richer, L. Robert, M. Ouzounian, L. Van Laer, J. De Backer, L. Muiño-Mosquera

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Genetic variant classification by predicted protein structure: A case study on IRF6

Hemma Murali, Peng Wang, Eric C. Liao, Kai Wang

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Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors

Lin, Yu-Jen^{Aff1, Aff2}, Menon, Arul S.^{Aff1, Aff3}, Hu, Zhiqiang^{Aff4, Aff5}, Brenner, Steven E.^{Aff1, Aff2, Aff3, Aff4, IDs4024602400663z_cor4}

Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery

Zhang, Xiaolei^{Aff1, Aff2, Aff3, Aff9, IDs13073024013589_cor1}, Theotokis, Pantazis I.^{Aff1, Aff2, Aff3}, Li, Nicholas^{Aff1, Aff2, Aff3}, Wright, Caroline F., Samocha, Kaitlin E.^{Aff5, Aff6}, Whiffin, Nicola^{Aff6, Aff7, Aff8, IDs13073024013589_cor7}, Ware, James S.^{Aff1, Aff2, Aff3, Aff6, IDs13073024013589_cor8}

Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance

Beaumont, Robin N.^{Aff1, IDs13073024013334_cor1}, Hawkes, Gareth, Gunning, Adam C.^{Aff1, Aff2}, Wright, Caroline F.^{Aff1, IDs13073024013334_cor4}

Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants

Wu, Hao^{Aff1, Aff2}, Lin, Jin-Huan^{Aff1, Aff2}, Tang, Xin-Ying^{Aff3, Aff2}, Marenne, Gaëlle, Zou, Wen-Bin^{Aff1, Aff2}, Schutz, Sacha^{Aff4, Aff5}, Masson, Emmanuelle^{Aff4, Aff5}, Génin, Emmanuelle, Fichou, Yann, Le Gac, Gerald^{Aff4, Aff5}, Férec, Claude, Liao, Zhuan^{Aff1, Aff2, IDs40246024005869_cor12}, Chen, Jian-Min^{Aff4, IDs40246024005869_cor13}

Improved modeling of RNA-binding protein motifs in an interpretable neural model of RNA splicing

Gupta, Kavi, Yang, Chenxi, McCue, Kayla, Bastani, Osbert, Sharp, Phillip A.^{Aff3, Aff5}, Burge, Christopher B.^{Aff3, IDs1305902303162x_cor6}, Solar-Lezama, Armando^{Aff1, IDs1305902303162x_cor7}

Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease

Dueñas Rey, Alfredo^{Aff1, Aff2}, del Pozo Valero, Marta^{Aff1, Aff2, Aff3}, Bouckaert, Manon^{Aff1, Aff2}, Wood, Katherine A, Van den Broeck, Filip^{Aff5, Aff6}, Daich Varela, Malena^{Aff7, Aff8}, Thomas, Huw B, Van Heetvelde, Mattias^{Aff1, Aff2}, De Bruyne, Marieke^{Aff1, Aff2}, Van de Sompele, Stijn^{Aff1, Aff2}, Bauwens, Miriam^{Aff1, Aff2}, Lenaerts, Hanne^{Aff1, Aff2}, Mahieu, Quinten^{Aff1, Aff2}, Josifova, Dragana, Rivolta, Carlo^{Aff11, Aff12, Aff13}, O’Keefe, Raymond T, Ellingford, Jamie^{Aff4, Aff10, Aff14}, Webster, Andrew R^{Aff7, Aff8}, Arno, Gavin^{Aff7, Aff8}, Ayuso, Carmen^{Aff3, Aff15}, De Zaeytijd, Julie^{Aff5, Aff6}, Leroy, Bart P^{Aff1, Aff5, Aff6, Aff16}, De Baere, Elfride^{Aff1, Aff2}, Coppieters, Frauke^{Aff1, Aff2, Aff17, IDs13073023012771_cor25}

Structural biology in variant interpretation: Perspectives and practices from two studies

Varga, Matthew J. ^{1, 2}, Richardson, Marcy E. ^{1, 2, ∗}, Chamberlin, Adam ^{1, 2, ∗∗}

Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer

Ng, Jeffrey K. ^{1, 11}, Chen, Yilin ^{2, 11}, Akinwe, Titilope M. ^{1, 3, 11}, Heins, Hillary B. ¹, Mehinovic, Elvisa ¹, Chang, Yoonhoo ^{1, 4}, Gutmann, David H. ⁵, Gurnett, Christina A. ^{5, 6}, Payne, Zachary L. ^{1, 3}, Manuel, Juana G. ¹, Karchin, Rachel ^{2, 7, 8, 9, 10, ∗}, Turner, Tychele N. ^{1, 6, 10, 12, ∗∗}

Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders

Wuming Xie, Baoqiong Liao, Mei Shuai, Rutian Liu, Min Hong, Shuwen He

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Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels

Emma H. Wilcox, Ryan F. Webb, Kezang C. Tshering, Madeline Y. Hughes, Hélène Cavé, Marina T. DiStefano, Hannah Dziadzio, Kate Garber, Bruce D. Gelb, Karen W. Gripp, Shoji Ichikawa, Jennifer A. Lee, Hannah McCurry, Marco Tartaglia, Bradley Williams, Martin Zenker, Lisa M. Vincent, Heather Mason-Suares, Bruce Gelb, Jennifer Lee, Karen Gripp, Kat Lafferty, Kezang Tshering, Lisa Vincent, Luis Enrique Gomez, Marina DiStefano, Reza Ahmadian, Ryan Webb

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UniVar: A variant interpretation platform enhancing rare disease diagnosis through robust filtering and unified analysis of SNV, INDEL, CNV and SV

Au-Yeung, Cherie C.Y. ^a, Cheung, Yuen-Ting ^a, Cheng, Joshua Y.T. ^a, Ip, Ken W.H. ^a, Lee, Sau-Dan ^a, Yang, Victor Y.T. ^a, Lau, Amy Y.T. ^a, Lee, Chit K.C. ^a, Chong, Peter K.H. ^a, Lau, King Wai ^a, van Lunenburg, Jurgen T.J. ^a, Zheng, Damon F.D. ^a, Ho, Brian H.M. ^a, Tik, Crystal ^a, Ho, Kingsley K.K. ^a, Rajaby, Ramesh ^{a, b}, Au, Chun-Hang ^a, Yu, Mullin H.C. ^a, Sung, Wing-Kin ^{a, c, d, ⁎}

Multiplexed Assays of Variant Effect and Reclassification of TYR Variants in Chinese Patients with Oculocutaneous Albinism

Lv, Shushu ¹, Hao, Zhenhua ^{2, 3, 4}, Li, Wei ^{2, 3, 4, ∗}, Wei, Aihua ^{1, ∗}