Works matching IS 10597794 AND DT 2019 AND VI 40 AND IP 9

Results: 40

Assessing predictions of the impact of variants on splicing in CAGI5.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1215, doi. 10.1002/humu.23869

By:

Mount, Stephen M.;
Avsec, Žiga;
Carmel, Liran;
Casadio, Rita;
Çelik, Muhammed Hasan;
Chen, Ken;
Cheng, Jun;
Cohen, Noa E.;
Fairbrother, William G.;
Fenesh, Tzila;
Gagneur, Julien;
Gotea, Valer;
Holzer, Tamar;
Lin, Chiao‐Feng;
Martelli, Pier Luigi;
Naito, Tatsuhiko;
Nguyen, Thi Yen Duong;
Savojardo, Castrense;
Unger, Ron;
Wang, Robert

Publication type:

Article

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1557, doi. 10.1002/humu.23818

By:

Parsons, Michael T.;
Tudini, Emma;
Li, Hongyan;
Hahnen, Eric;
Wappenschmidt, Barbara;
Feliubadaló, Lidia;
Aalfs, Cora M.;
Agata, Simona;
Aittomäki, Kristiina;
Alducci, Elisa;
Alonso‐Cerezo, María Concepción;
Arnold, Norbert;
Auber, Bernd;
Austin, Rachel;
Azzollini, Jacopo;
Balmaña, Judith;
Barbieri, Elena;
Bartram, Claus R.;
Blanco, Ana;
Blümcke, Britta

Publication type:

Article

Assessing computational predictions of the phenotypic effect of cystathionine‐beta‐synthase variants.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1530, doi. 10.1002/humu.23868

By:

Kasak, Laura;
Bakolitsa, Constantina;
Hu, Zhiqiang;
Yu, Changhua;
Rine, Jasper;
Dimster‐Denk, Dago F.;
Pandey, Gaurav;
Baets, Greet;
Bromberg, Yana;
Cao, Chen;
Capriotti, Emidio;
Casadio, Rita;
Durme, Joost;
Giollo, Manuel;
Karchin, Rachel;
Katsonis, Panagiotis;
Leonardi, Emanuela;
Lichtarge, Olivier;
Martelli, Pier Luigi;
Masica, David

Publication type:

Article

The following article for this Special Issue was previously published and can be found in their respective issues or online.

Published in:: Human Mutation, 2019, v. 40, n. 9, p. 1, doi. 10.1002/humu.23090
Publication type:: Article

Back Cover, Volume 40, Issue 9.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. ii, doi. 10.1002/humu.23918

By:

Andreoletti, Gaia;
Pal, Lipika R.;
Moult, John;
Brenner, Steven E.

Publication type:

Article

CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1373, doi. 10.1002/humu.23874

By:

Kasak, Laura;
Hunter, Jesse M.;
Udani, Rupa;
Bakolitsa, Constantina;
Hu, Zhiqiang;
Adhikari, Aashish N.;
Babbi, Giulia;
Casadio, Rita;
Gough, Julian;
Guerrero, Rafael F.;
Jiang, Yuxiang;
Joseph, Thomas;
Katsonis, Panagiotis;
Kotte, Sujatha;
Kundu, Kunal;
Lichtarge, Olivier;
Martelli, Pier Luigi;
Mooney, Sean D.;
Moult, John;
Pal, Lipika R.

Publication type:

Article

CAGI5: Objective performance assessments of predictions based on the Evolutionary Action equation.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1436, doi. 10.1002/humu.23873

By:

Katsonis, Panagiotis;
Lichtarge, Olivier

Publication type:

Article

Front Cover, Volume 40, Issue 9.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. i, doi. 10.1002/humu.23908

By:

Padilla, Natàlia;
Moles‐Fernández, Alejandro;
Riera, Casandra;
Montalban, Gemma;
Özkan, Selen;
Ootes, Lars;
Bonache, Sandra;
Díez, Orland;
Gutiérrez‐Enríquez, Sara;
de la Cruz, Xavier

Publication type:

Article

Reports from the fifth edition of CAGI: The Critical Assessment of Genome Interpretation.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1197, doi. 10.1002/humu.23876

By:

Andreoletti, Gaia;
Pal, Lipika R.;
Moult, John;
Brenner, Steven E.

Publication type:

Article

Assessment of predicted enzymatic activity of α‐N‐acetylglucosaminidase variants of unknown significance for CAGI 2016.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1519, doi. 10.1002/humu.23875

By:

Clark, Wyatt T.;
Kasak, Laura;
Bakolitsa, Constantina;
Hu, Zhiqiang;
Andreoletti, Gaia;
Babbi, Giulia;
Bromberg, Yana;
Casadio, Rita;
Dunbrack, Roland;
Folkman, Lukas;
Ford, Colby T.;
Jones, David;
Katsonis, Panagiotis;
Kundu, Kunal;
Lichtarge, Olivier;
Martelli, Pier L.;
Mooney, Sean D.;
Nodzak, Conor;
Pal, Lipika R.;
Radivojac, Predrag

Publication type:

Article

Future directions for high‐throughput splicing assays in precision medicine.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1225, doi. 10.1002/humu.23866

By:

Rhine, Christy L.;
Neil, Christopher;
Glidden, David T.;
Cygan, Kamil J.;
Fredericks, Alger M.;
Wang, Jing;
Walton, Nephi A.;
Fairbrother, William G.

Publication type:

Article

Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI‐5.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1474, doi. 10.1002/humu.23856

By:

Monzon, Alexander Miguel;
Carraro, Marco;
Chiricosta, Luigi;
Reggiani, Francesco;
Han, James;
Ozturk, Kivilcim;
Wang, Yanran;
Miller, Maximilian;
Bromberg, Yana;
Capriotti, Emidio;
Savojardo, Castrense;
Babbi, Giulia;
Martelli, Pier L.;
Casadio, Rita;
Katsonis, Panagiotis;
Lichtarge, Olivier;
Carter, Hannah;
Kousi, Maria;
Katsanis, Nicholas;
Andreoletti, Gaia

Publication type:

Article

Assessing predictions on fitness effects of missense variants in calmodulin.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1463, doi. 10.1002/humu.23857

By:

Zhang, Jing;
Kinch, Lisa N.;
Cong, Qian;
Katsonis, Panagiotis;
Lichtarge, Olivier;
Savojardo, Castrense;
Babbi, Giulia;
Martelli, Pier Luigi;
Capriotti, Emidio;
Casadio, Rita;
Garg, Aditi;
Pal, Debnath;
Weile, Jochen;
Sun, Song;
Verby, Marta;
Roth, Frederick P.;
Grishin, Nick V.

Publication type:

Article

VIPdb, a genetic Variant Impact Predictor Database.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1202, doi. 10.1002/humu.23858

By:

Hu, Zhiqiang;
Yu, Changhua;
Furutsuki, Mabel;
Andreoletti, Gaia;
Ly, Melissa;
Hoskins, Roger;
Adhikari, Aashish N.;
Brenner, Steven E.

Publication type:

Article

Predicting pathogenicity of missense variants with weakly supervised regression.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1579, doi. 10.1002/humu.23826

By:

Cao, Yue;
Sun, Yuanfei;
Karimi, Mostafa;
Chen, Haoran;
Moronfoye, Oluwaseyi;
Shen, Yang

Publication type:

Article

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1546, doi. 10.1002/humu.23861

By:

Cline, Melissa S.;
Babbi, Giulia;
Bonache, Sandra;
Cao, Yue;
Casadio, Rita;
Cruz, Xavier;
Díez, Orland;
Gutiérrez‐Enríquez, Sara;
Katsonis, Panagiotis;
Lai, Carmen;
Lichtarge, Olivier;
Martelli, Pier L.;
Mishne, Gilad;
Moles‐Fernández, Alejandro;
Montalban, Gemma;
Mooney, Sean D.;
O'Conner, Robert;
Ootes, Lars;
Özkan, Selen;
Padilla, Natalia

Publication type:

Article

Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1392, doi. 10.1002/humu.23843

By:

Savojardo, Castrense;
Petrosino, Maria;
Babbi, Giulia;
Bovo, Samuele;
Corbi‐Verge, Carles;
Casadio, Rita;
Fariselli, Piero;
Folkman, Lukas;
Garg, Aditi;
Karimi, Mostafa;
Katsonis, Panagiotis;
Kim, Philip M.;
Lichtarge, Olivier;
Martelli, Pier Luigi;
Pasquo, Alessandra;
Pal, Debnath;
Shen, Yang;
Strokach, Alexey V.;
Turina, Paola;
Zhou, Yaoqi

Publication type:

Article

Assessment of methods for predicting the effects of PTEN and TPMT protein variants.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1495, doi. 10.1002/humu.23838

By:

Pejaver, Vikas;
Babbi, Giulia;
Casadio, Rita;
Folkman, Lukas;
Katsonis, Panagiotis;
Kundu, Kunal;
Lichtarge, Olivier;
Martelli, Pier Luigi;
Miller, Maximilian;
Moult, John;
Pal, Lipika R.;
Savojardo, Castrense;
Yin, Yizhou;
Zhou, Yaoqi;
Radivojac, Predrag;
Bromberg, Yana

Publication type:

Article

Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1612, doi. 10.1002/humu.23849

By:

Voskanian, Alin;
Katsonis, Panagiotis;
Lichtarge, Olivier;
Pejaver, Vikas;
Radivojac, Predrag;
Mooney, Sean D.;
Capriotti, Emidio;
Bromberg, Yana;
Wang, Yanran;
Miller, Max;
Martelli, Pier Luigi;
Savojardo, Castrense;
Babbi, Giulia;
Casadio, Rita;
Cao, Yue;
Sun, Yuanfei;
Shen, Yang;
Garg, Aditi;
Pal, Debnath;
Yu, Yao

Publication type:

Article

Predicting changes in protein stability caused by mutation using sequence‐and structure‐based methods in a CAGI5 blind challenge.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1414, doi. 10.1002/humu.23852

By:

Strokach, Alexey;
Corbi‐Verge, Carles;
Kim, Philip M.

Publication type:

Article

Gene‐specific features enhance interpretation of mutational impact on acid α‐glucosidase enzyme activity.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1507, doi. 10.1002/humu.23846

By:

Adhikari, Aashish N.

Publication type:

Article

What went wrong with variant effect predictor performance for the PCM1 challenge.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1486, doi. 10.1002/humu.23832

By:

Miller, Maximilian;
Wang, Yanran;
Bromberg, Yana

Publication type:

Article

Identifying mutation‐driven changes in gene functionality that lead to venous thromboembolism.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1321, doi. 10.1002/humu.23824

By:

Wang, Yanran;
Bromberg, Yana

Publication type:

Article

Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1330, doi. 10.1002/humu.23823

By:

Carraro, Marco;
Monzon, Alexander Miguel;
Chiricosta, Luigi;
Reggiani, Francesco;
Aspromonte, Maria Cristina;
Bellini, Mariagrazia;
Pagel, Kymberleigh;
Jiang, Yuxiang;
Radivojac, Predrag;
Kundu, Kunal;
Pal, Lipika R.;
Yin, Yizhou;
Limongelli, Ivan;
Andreoletti, Gaia;
Moult, John;
Wilson, Stephen J.;
Katsonis, Panagiotis;
Lichtarge, Olivier;
Chen, Jingqi;
Wang, Yaqiong

Publication type:

Article

Characterization of intellectual disability and autism comorbidity through gene panel sequencing.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1346, doi. 10.1002/humu.23822

By:

Aspromonte, Maria C.;
Bellini, Mariagrazia;
Gasparini, Alessandra;
Carraro, Marco;
Bettella, Elisa;
Polli, Roberta;
Cesca, Federica;
Bigoni, Stefania;
Boni, Stefania;
Carlet, Ombretta;
Negrin, Susanna;
Mammi, Isabella;
Milani, Donatella;
Peron, Angela;
Sartori, Stefano;
Toldo, Irene;
Soli, Fiorenza;
Turolla, Licia;
Stanzial, Franco;
Benedicenti, Francesco

Publication type:

Article

Predicting the impact of single nucleotide variants on splicing via sequence‐based deep neural networks and genomic features.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1261, doi. 10.1002/humu.23794

By:

Naito, Tatsuhiko

Publication type:

Article

Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1314, doi. 10.1002/humu.23825

By:

McInnes, Gregory;
Daneshjou, Roxana;
Katsonis, Panagiostis;
Lichtarge, Olivier;
Srinivasan, Rajgopal;
Rana, Sadhna;
Radivojac, Predrag;
Mooney, Sean D.;
Pagel, Kymberleigh A.;
Stamboulian, Moses;
Jiang, Yuxiang;
Capriotti, Emidio;
Wang, Yanran;
Bromberg, Yana;
Bovo, Samuele;
Savojardo, Castrense;
Martelli, Pier Luigi;
Casadio, Rita;
Pal, Lipika R.;
Moult, John

Publication type:

Article

BRCA1‐ and BRCA2‐specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1593, doi. 10.1002/humu.23802

By:

Padilla, Natàlia;
Moles‐Fernández, Alejandro;
Riera, Casandra;
Montalban, Gemma;
Özkan, Selen;
Ootes, Lars;
Bonache, Sandra;
Díez, Orland;
Gutiérrez‐Enríquez, Sara;
de la Cruz, Xavier

Publication type:

Article

Exploring the use of molecular dynamics in assessing protein variants for phenotypic alterations.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1424, doi. 10.1002/humu.23800

By:

Garg, Aditi;
Pal, Debnath

Publication type:

Article

Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1280, doi. 10.1002/humu.23797

By:

Shigaki, Dustin;
Adato, Orit;
Adhikari, Aashish N.;
Dong, Shengcheng;
Hawkins‐Hooker, Alex;
Inoue, Fumitaka;
Juven‐Gershon, Tamar;
Kenlay, Henry;
Martin, Beth;
Patra, Ayoti;
Penzar, Dmitry D.;
Schubach, Max;
Xiong, Chenling;
Yan, Zhongxia;
Boyle, Alan P.;
Kreimer, Anat;
Kulakovskiy, Ivan V.;
Reid, John;
Unger, Ron;
Yosef, Nir

Publication type:

Article

Meta‐analysis of massively parallel reporter assays enables prediction of regulatory function across cell types.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1299, doi. 10.1002/humu.23820

By:

Kreimer, Anat;
Yan, Zhongxia;
Ahituv, Nadav;
Yosef, Nir

Publication type:

Article

Predicting functional variants in enhancer and promoter elements using RegulomeDB.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1292, doi. 10.1002/humu.23791

By:

Dong, Shengcheng;
Boyle, Alan P.

Publication type:

Article

Using secondary structure to predict the effects of genetic variants on alternative splicing.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1270, doi. 10.1002/humu.23790

By:

Wang, Robert;
Wang, Yaqiong;
Hu, Zhiqiang

Publication type:

Article

Characterization of human frataxin missense variants in cancer tissues.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1400, doi. 10.1002/humu.23789

By:

Petrosino, Maria;
Pasquo, Alessandra;
Novak, Leonore;
Toto, Angelo;
Gianni, Stefano;
Mantuano, Elide;
Veneziano, Liana;
Minicozzi, Velia;
Pastore, Annalisa;
Puglisi, Rita;
Capriotti, Emidio;
Chiaraluce, Roberta;
Consalvi, Valerio

Publication type:

Article

CAGI 5 splicing challenge: Improved exon skipping and intron retention predictions with MMSplice.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1243, doi. 10.1002/humu.23788

By:

Cheng, Jun;
Çelik, Muhammed Hasan;
Nguyen, Thi Yen Duong;
Avsec, Žiga;
Gagneur, Julien

Publication type:

Article

Predicting the change of exon splicing caused by genetic variant using support vector regression.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1235, doi. 10.1002/humu.23785

By:

Chen, Ken;
Lu, Yutong;
Zhao, Huiying;
Yang, Yuedong

Publication type:

Article

Are machine learning based methods suited to address complex biological problems? Lessons from CAGI‐5 challenges.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1455, doi. 10.1002/humu.23784

By:

Savojardo, Castrense;
Babbi, Giulia;
Bovo, Samuele;
Capriotti, Emidio;
Martelli, Pier Luigi;
Casadio, Rita

Publication type:

Article

CAGI experiments: Modeling sequence variant impact on gene splicing using predictions from computational tools.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1252, doi. 10.1002/humu.23782

By:

Gotea, Valer;
Margolin, Gennady;
Elnitski, Laura

Publication type:

Article

A fully‐automated event‐based variant prioritizing solution to the CAGI5 intellectual disability gene panel challenge.

Published in:

Human Mutation, 2019, v. 40, n. 9, p. 1364, doi. 10.1002/humu.23781

By:

Chen, Jingqi

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2019, v. 40, n. 9, p. 1191, doi. 10.1002/humu.23576
Publication type:: Article