Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.
Genome Medicine
Stoltze, Ulrik Kristoffer UK; Hagen, Christian Munch CM; van Overeem Hansen, Thomas T; Byrjalsen, Anna A; Gerdes, Anne-Marie AM; Yakimov, Victor V; Rasmussen, Simon S; Bækvad-Hansen, Marie M; Hougaard, David Michael DM; Schmiegelow, Kjeld K; Hjalgrim, Henrik H; Wadt, Karin K; Bybjerg-Grauholm, Jonas J
Publication Date: 2023-03-14
Variant appearance in text: MLH1: 1040C>A; Thr347Asn
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
Discrepancies between tumor genomic profiling and germline genetic testing.
Esmo Open
Pauley, K K; Koptiuch, C C; Greenberg, S S; Kohlmann, W W; Jeter, J J; Colonna, S S; Werner, T T; Kinsey, C C; Gilcrease, G G; Weis, J J; Whisenant, J J; Florou, V V; Garrido-Laguna, I I
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Frontiers In Genetics
Thompson, Bryony A BA; Walters, Rhiannon R; Parsons, Michael T MT; Dumenil, Troy T; Drost, Mark M; Tiersma, Yvonne Y; Lindor, Noralane M NM; Tavtigian, Sean V SV; de Wind, Niels N; Spurdle, Amanda B AB; ,
Publication Date: 2020
Variant appearance in text: MLH1: 1040C>A; Thr347Asn
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
A Bayesian framework for efficient and accurate variant prediction.
Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
Molecular Genetics & Genomic Medicine
DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN
Publication Date: 2017-09
Variant appearance in text: MLH1: 1040C>A; Thr347Asn; rs201541505
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
Human Mutation
Thompson, Bryony A BA; Goldgar, David E DE; Paterson, Carol C; Clendenning, Mark M; Walters, Rhiannon R; Arnold, Sven S; Parsons, Michael T MT; Michael D, Walsh W; Gallinger, Steven S; Haile, Robert W RW; Hopper, John L JL; Jenkins, Mark A MA; Lemarchand, Loic L; Lindor, Noralane M NM; Newcomb, Polly A PA; Thibodeau, Stephen N SN; , ; Young, Joanne P JP; Buchanan, Daniel D DD; Tavtigian, Sean V SV; Spurdle, Amanda B AB
Publication Date: 2013-01
Variant appearance in text: MLH1: 1040C>A; Thr347Asn