1. A fully‐automated event‐based variant prioritizing solution to the CAGI5 intellectual disability gene panel challenge. Issue 9 (21st May 2019) Authors: Chen, Jingqi Editors: Moult, John; Brenner, Steven E. Other Names: Karchin Rachel guestEditor.; Pal Lipika R. specialEditor. Journal: Human mutation Issue: Volume 40:Issue 9(2019) Page Start: 1364 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An expanded evaluation of protein function prediction methods shows an improvement in accuracy. Issue 1 (December 2016) Authors: Jiang, Yuxiang; Oron, Tal Ronnen; Clark, Wyatt T.; Bankapur, Asma R.; D'Andrea, Daniel; Lepore, Rosalba; Funk, Christopher S.; Kahanda, Indika; Verspoor, Karin M.; Ben-Hur, Asa; Koo, Da Chen Emily; Penfold-Brown, Duncan; Shasha, Dennis; Youngs, Noah; Bonneau, Richard; Lin, Alexandra; Sahraeian, S... Journal: Genome biology Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Are machine learning based methods suited to address complex biological problems? Lessons from CAGI‐5 challenges. Issue 9 (18th June 2019) Authors: Savojardo, Castrense; Babbi, Giulia; Bovo, Samuele; Capriotti, Emidio; Martelli, Pier Luigi; Casadio, Rita Editors: Moult, John; Brenner, Steven E. Other Names: Karchin Rachel guestEditor.; Pal Lipika R. specialEditor. Journal: Human mutation Issue: Volume 40:Issue 9(2019) Page Start: 1455 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Assessing computational predictions of the phenotypic effect of cystathionine‐beta‐synthase variants. Issue 9 (3rd September 2019) Authors: Kasak, Laura; Bakolitsa, Constantina; Hu, Zhiqiang; Yu, Changhua; Rine, Jasper; Dimster‐Denk, Dago F.; Pandey, Gaurav; De Baets, Greet; Bromberg, Yana; Cao, Chen; Capriotti, Emidio; Casadio, Rita; Van Durme, Joost; Giollo, Manuel; Karchin, Rachel; Katsonis, Panagiotis; Leonardi, Emanuela; Lichtar... Editors: Moult, John; Brenner, Steven E. Other Names: Karchin Rachel guestEditor.; Pal Lipika R. specialEditor. Journal: Human mutation Issue: Volume 40:Issue 9(2019) Page Start: 1530 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Assessing predictions of the impact of variants on splicing in CAGI5. Issue 9 (19th August 2019) Authors: 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; Savojard... Editors: Moult, John; Brenner, Steven E. Other Names: Karchin Rachel guestEditor.; Pal Lipika R. specialEditor. Journal: Human mutation Issue: Volume 40:Issue 9(2019) Page Start: 1215 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Assessing predictions on fitness effects of missense variants in calmodulin. Issue 9 (3rd September 2019) Authors: 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. Editors: Moult, John; Brenner, Steven E. Other Names: Karchin Rachel guestEditor.; Pal Lipika R. specialEditor. Journal: Human mutation Issue: Volume 40:Issue 9(2019) Page Start: 1463 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer. Issue 9 (17th August 2019) Authors: 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; ... Editors: Moult, John; Brenner, Steven E. Other Names: Karchin Rachel guestEditor.; Pal Lipika R. specialEditor. Journal: Human mutation Issue: Volume 40:Issue 9(2019) Page Start: 1612 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants. Issue 9 (23rd August 2019) Authors: Cline, Melissa S.; Babbi, Giulia; Bonache, Sandra; Cao, Yue; Casadio, Rita; de la 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,... Editors: Moult, John; Brenner, Steven E. Other Names: Karchin Rachel guestEditor.; Pal Lipika R. specialEditor. Journal: Human mutation Issue: Volume 40:Issue 9(2019) Page Start: 1546 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Assessment of methods for predicting the effects of PTEN and TPMT protein variants. Issue 9 (3rd July 2019) Authors: 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 Editors: Moult, John; Brenner, Steven E. Other Names: Karchin Rachel guestEditor.; Pal Lipika R. specialEditor. Journal: Human mutation Issue: Volume 40:Issue 9(2019) Page Start: 1495 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge. Issue 9 (3rd July 2019) Authors: 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 ... Editors: Moult, John; Brenner, Steven E. Other Names: Karchin Rachel guestEditor.; Pal Lipika R. specialEditor. Journal: Human mutation Issue: Volume 40:Issue 9(2019) Page Start: 1330 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗