Genetic Variation

Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations
Alice Garrett, Miranda Durkie, Alison Callaway, George J Burghel, Rachel Robinson, James Drummond, Bethany Torr, Cankut Cubuk, Ian R Berry, Andrew J Wallace, Sian Ellard, Diana M Eccles, Marc Tischkowitz, Helen Hanson, Clare Turnbull

Journal of Medical Genetics Nov 2020, jmedgenet-2020-107248; DOI: 10.1136/jmedgenet-2020-107248
Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations
Shanmuga Priya Bhaskaran, Teng Huang, Barani Kumar Rajendran, Maoni Guo, Jiangtao Luo, Zixin Qin, Bojin Zhao, Jiasheng Chian, Suicheng Li, San Ming Wang

Journal of Medical Genetics Sep 2020, jmedgenet-2020-107299; DOI: 10.1136/jmedgenet-2020-107299
Assessing performance of pathogenicity predictors using clinically relevant variant datasets
Adam C Gunning, Verity Fryer, James Fasham, Andrew H Crosby, Sian Ellard, Emma L Baple, Caroline F Wright

Journal of Medical Genetics Aug 2020, jmedgenet-2020-107003; DOI: 10.1136/jmedgenet-2020-107003
SNVerGUI: a desktop tool for variant analysis of next-generation sequencing data
Wei Wang, Weicheng Hu, Fang Hou, Pingzhao Hu, Zhi Wei

Journal of Medical Genetics Dec 2012, 49 (12) 753-755; DOI: 10.1136/jmedgenet-2012-101001

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