Works matching IS 10597794 AND DT 2017 AND VI 38 AND IP 9

Results: 26

Whole-protein alanine-scanning mutagenesis of allostery: A large percentage of a protein can contribute to mechanism.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1132, doi. 10.1002/humu.23231

By:

Tang, Qingling;
Fenton, Aron W.

Publication type:

Article

Predicting gene expression in massively parallel reporter assays: A comparative study.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1240, doi. 10.1002/humu.23197

By:

Kreimer, Anat;
Zeng, Haoyang;
Edwards, Matthew D.;
Guo, Yuchun;
Tian, Kevin;
Shin, Sunyoung;
Welch, Rene;
Wainberg, Michael;
Mohan, Rahul;
Sinnott‐Armstrong, Nicholas A.;
Li, Yue;
Eraslan, Gökcen;
AMIN, Talal Bin;
Tewhey, Ryan;
Sabeti, Pardis C.;
Goke, Jonathan;
Mueller, Nikola S.;
Kellis, Manolis;
Kundaje, Anshul;
Beer, Michael A

Publication type:

Article

Accurate eQTL prioritization with an ensemble-based framework.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1259, doi. 10.1002/humu.23198

By:

Zeng, Haoyang;
Edwards, Matthew D.;
Guo, Yuchun;
Gifford, David K.

Publication type:

Article

Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1266, doi. 10.1002/humu.23265

By:

Cai, Binghuang;
Li, Biao;
Kiga, Nikki;
Thusberg, Janita;
Bergquist, Timothy;
Chen, Yun‐Ching;
Niknafs, Noushin;
Carter, Hannah;
Tokheim, Collin;
Beleva‐Guthrie, Violeta;
Douville, Christopher;
Bhattacharya, Rohit;
Yeo, Hui Ting Grace;
Fan, Jean;
Sengupta, Sohini;
Kim, Dewey;
Cline, Melissa;
Turner, Tychele;
Diekhans, Mark;
Zaucha, Jan

Publication type:

Article

Novel ID gene CSNK2B: The crossover from molecular diagnosis to research continues.

Published in:

2017

By:

Dibbens, Leanne M.

Publication type:

Other

Exploring the limits of the usefulness of mutagenesis in studies of allosteric mechanisms.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1144, doi. 10.1002/humu.23239

By:

Tang, Qingling;
Alontaga, Aileen Y.;
Holyoak, Todd;
Fenton, Aron W.

Publication type:

Article

PON-P and PON-P2 predictor performance in CAGI challenges: Lessons learned.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1085, doi. 10.1002/humu.23199

By:

Niroula, Abhishek;
Vihinen, Mauno

Publication type:

Article

Objective assessment of the evolutionary action equation for the fitness effect of missense mutations across CAGI-blinded contests.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1072, doi. 10.1002/humu.23266

By:

Katsonis, Panagiotis;
Lichtarge, Olivier

Publication type:

Article

Predicting enhancer activity and variant impact using gkm-SVM.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1251, doi. 10.1002/humu.23185

By:

Beer, Michael A.

Publication type:

Article

CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1225, doi. 10.1002/humu.23256

By:

Pal, Lipika R.;
Kundu, Kunal;
Yin, Yizhou;
Moult, John

Publication type:

Article

Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challenges.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1109, doi. 10.1002/humu.23267

By:

Yin, Yizhou;
Kundu, Kunal;
Pal, Lipika R.;
Moult, John

Publication type:

Article

Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1182, doi. 10.1002/humu.23280

By:

Daneshjou, Roxana;
Wang, Yanran;
Bromberg, Yana;
Bovo, Samuele;
Martelli, Pier L;
Babbi, Giulia;
Lena, Pietro Di;
Casadio, Rita;
Edwards, Matthew;
Gifford, David;
Jones, David T;
Sundaram, Laksshman;
Bhat, Rajendra Rana;
Li, Xiaolin;
Pal, Lipika R.;
Kundu, Kunal;
Yin, Yizhou;
Moult, John;
Jiang, Yuxiang;
Pejaver, Vikas

Publication type:

Article

CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1169, doi. 10.1002/humu.23257

By:

Pal, Lipika R.;
Kundu, Kunal;
Yin, Yizhou;
Moult, John

Publication type:

Article

Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1042, doi. 10.1002/humu.23235

By:

Carraro, Marco;
Minervini, Giovanni;
Giollo, Manuel;
Bromberg, Yana;
Capriotti, Emidio;
Casadio, Rita;
Dunbrack, Roland;
Elefanti, Lisa;
Fariselli, Pietro;
Ferrari, Carlo;
Gough, Julian;
Katsonis, Panagiotis;
Leonardi, Emanuela;
Lichtarge, Olivier;
Menin, Chiara;
Martelli, Pier Luigi;
Niroula, Abhishek;
Pal, Lipika R.;
Repo, Susanna;
Scaini, Maria Chiara

Publication type:

Article

Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1092, doi. 10.1002/humu.23258

By:

Pejaver, Vikas;
Mooney, Sean D.;
Radivojac, Predrag

Publication type:

Article

Assessing predictions of fitness effects of missense mutations in SUMO-conjugating enzyme UBE2I.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1051, doi. 10.1002/humu.23293

By:

Zhang, Jing;
Kinch, Lisa N.;
Cong, Qian;
Weile, Jochen;
Sun, Song;
Cote, Atina G.;
Roth, Frederick P.;
Grishin, Nick V.

Publication type:

Article

DeepBipolar: Identifying genomic mutations for bipolar disorder via deep learning.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1217, doi. 10.1002/humu.23272

By:

Laksshman, Sundaram;
Bhat, Rajendra Rana;
Viswanath, Vivek;
Li, Xiaolin

Publication type:

Article

Stratified polygenic risk prediction model with application to CAGI bipolar disorder sequencing data.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1235, doi. 10.1002/humu.23229

By:

Wang, Maggie Haitian;
Chang, Billy;
Sun, Rui;
Hu, Inchi;
Xia, Xiaoxuan;
Wu, William Ka Kei;
Chong, Ka Chun;
Zee, Benny Chung‐Ying

Publication type:

Article

Reports from CAGI: The Critical Assessment of Genome Interpretation.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1039, doi. 10.1002/humu.23290

By:

Hoskins, Roger A;
Repo, Susanna;
Barsky, Daniel;
Andreoletti, Gaia;
Moult, John;
Brenner, Steven E.

Publication type:

Article

Benchmarking predictions of allostery in liver pyruvate kinase in CAGI4.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1123, doi. 10.1002/humu.23222

By:

Xu, Qifang;
Tang, Qingling;
Katsonis, Panagiotis;
Lichtarge, Olivier;
Jones, David;
Bovo, Samuele;
Babbi, Giulia;
Martelli, Pier L.;
Casadio, Rita;
Lee, Gyu Rie;
Seok, Chaok;
Fenton, Aron W.;
Dunbrack, Roland L.

Publication type:

Article

Lessons from the CAGI-4 Hopkins clinical panel challenge.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1155, doi. 10.1002/humu.23225

By:

Chandonia, John‐Marc;
Adhikari, Aashish;
Carraro, Marco;
Chhibber, Aparna;
Cutting, Garry R.;
Fu, Yao;
Gasparini, Alessandra;
Jones, David T.;
Kramer, Andreas;
Kundu, Kunal;
Lam, Hugo Y. K.;
Leonardi, Emanuela;
Moult, John;
Pal, Lipika R.;
Searls, David B.;
Shah, Sohela;
Sunyaev, Shamil;
Tosatto, Silvio C. E.;
Yin, Yizhou;
Buckley, Bethany A.

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2017, v. 38, n. 9, p. 1033, doi. 10.1002/humu.23100
Publication type:: Article

Crohn disease risk prediction-Best practices and pitfalls with exome data.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1193, doi. 10.1002/humu.23177

By:

Giollo, Manuel;
Jones, David T.;
Carraro, Marco;
Leonardi, Emanuela;
Ferrari, Carlo;
Tosatto, Silvio C.E.

Publication type:

Article

Blind prediction of deleterious amino acid variations with SNPs&GO.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1064, doi. 10.1002/humu.23179

By:

Capriotti, Emidio;
Martelli, Pier Luigi;
Fariselli, Piero;
Casadio, Rita

Publication type:

Article

Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. 1201, doi. 10.1002/humu.23249

By:

Kundu, Kunal;
Pal, Lipika R.;
Yin, Yizhou;
Moult, John

Publication type:

Article

Cover Image, Volume 38, Issue 9.

Published in:

Human Mutation, 2017, v. 38, n. 9, p. i, doi. 10.1002/humu.23314

By:

Xu, Qifang;
Tang, Qingling;
Katsonis, Panagiotis;
Lichtarge, Olivier;
Jones, David;
Bovo, Samuele;
Babbi, Giulia;
Martelli, Pier L.;
Casadio, Rita;
Lee, Gyu Rie;
Seok, Chaok;
Fenton, Aron W.;
Dunbrack, Roland L.

Publication type:

Article