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Melidis P., Damianos [Author]

Classifying distinct data types: textual streams protein sequences and genomic variants

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Hannover: Gottfried Wilhelm Leibniz Universität, 2023
Melidis, Damianos P. [Author]

Classifying distinct data types: textual streams protein sequences and genomic variants - [published Version]

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https://www.repo.uni-hannover.de/handle/123456789/13624

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Hannover : Institutionelles Repositorium der Leibniz Universität Hannover, 2023
Cheng, Liting; Li, Xiaoyan; Zhao, Lin; Wang, Zefeng; Zhang, Junmeng; Liang, Zhuo; Wu, Yongquan

Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework

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Hindawi Limited, 2020

Published in: International Journal of Genomics
Tavtigian, Sean V.; Greenblatt, Marc S.; Harrison, Steven M.; Nussbaum, Robert L.; Prabhu, Snehit A.; Boucher, Kenneth M.; Biesecker, Leslie G.

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

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Elsevier BV, 2018

Published in: Genetics in Medicine
Jessie M. Cameron; Mayowa Azeez Osundiji; Rory J. Olson; Bukola A. Olarewaju; Andreas Schulze

ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics

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2024

Published in: Genetics in Medicine Open
Alexa Dickson; Meagan Corliss; Jonathan Heusel; Ellen Ziegemeier; Jorge Llibre-Guerra; Alison Goate; Carlos Cruchaga; Alan Renton; Celeste Karch; Victoria Fernandez Hernandez; Gregory Day; Laura Courtney; Eric McDade; Randall Bateman; Kevin Bowling

P430: Application of ACMG/AMP variant classification guidelines to Alzheimer’s disease-associated genetic variation

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2023

Published in: Genetics in Medicine Open
Hatton, Jessica N.; Frone, Megan N.; Cox, Hannah C.; Crowley, Stephanie B.; Hiraki, Susan; Yokoyama, Noriko N.; Abul-Husn, Noura S.; Amatruda, James F.; Anderson, Michael J.; Bofill-De Ros, Xavier; Carr, Ann G.; Chao, Elizabeth C.; Chen, Kenneth S.; Gu, Shuo; Higgs, Cecilia; Machado, Jerry; Ritter, Deborah; Schultz, Kris Ann P.; Soper, Emily R.; Wu, Mona K.; Mester, Jessica L.; Kim, Jung; Foulkes, William D.; Witkowski, Leora;

Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation

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Hindawi Limited, 2023

Published in: Human Mutation
Nicora, Giovanna; Zucca, Susanna; Limongelli, Ivan; Bellazzi, Riccardo; Magni, Paolo

A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization

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Springer Science and Business Media LLC, 2022

Published in: Scientific Reports
Bueno‐Martínez, Elena; Sanoguera‐Miralles, Lara; Valenzuela‐Palomo, Alberto; Esteban‐Sánchez, Ada; Lorca, Víctor; Llinares‐Burguet, Inés; Allen, Jamie; García‐Álvarez, Alicia; Pérez‐Segura, Pedro; Durán, Mercedes; Easton, Douglas F; Devilee, Peter; Vreeswijk, Maaike PG; de la Hoya, Miguel; Velasco‐Sampedro, Eladio A

Minigene‐based splicing analysis and ACMG/AMP‐based tentative classification of 56 ATM variants

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Wiley, 2022

Published in: The Journal of Pathology
Brandt, Tracy; Sack, Laura M.; Arjona, Dolores; Tan, Duanjun; Mei, Hui; Cui, Hong; Gao, Hua; Bean, Lora J.H.; Ankala, Arunkanth; Del Gaudio, Daniela; Knight Johnson, Amy; Vincent, Lisa M.; Reavey, Caitlin; Lai, Amy; Richard, Gabriele; Meck, Jeanne M.

Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

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Elsevier BV, 2020

Published in: Genetics in Medicine
Brandt, Tracy; Sack, Laura M.; Arjona, Dolores; Tan, Duanjun; Mei, Hui; Cui, Hong; Gao, Hua; Bean, Lora J.H.; Ankala, Arunkanth; Del Gaudio, Daniela; Johnson, Amy Knight; Vincent, Lisa M.; Reavey, Caitlin; Lai, Amy; Richard, Gabriele; Meck, Jeanne M.

Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants

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Elsevier BV, 2020

Published in: Genetics in Medicine
Nykamp, Keith; Anderson, Michael; Powers, Martin; Garcia, John; Herrera, Blanca; Ho, Yuan-Yuan; Kobayashi, Yuya; Patil, Nila; Thusberg, Janita; Westbrook, Marjorie; Topper, Scott; Aguilar, Sienna; Aradhya, Swaroop; Beltran, Daniel; Bunker, Brandon; Daly, Amy; Deucher, Anne; Ekstein, Tali; Entezam, Ali; Erhard, Karl; Esplin, Ed; Fulbright, Jennifer; Fuller, Amy; Gibson, Kristen McDonald; [...]

Correction: Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

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Elsevier BV, 2020

Published in: Genetics in Medicine
Tavtigian, Sean V.; Harrison, Steven M.; Boucher, Kenneth M.; Biesecker, Leslie G.

Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines

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Hindawi Limited, 2020

Published in: Human Mutation
Amendola, Laura M.; Muenzen, Kathleen; Biesecker, Leslie G.; Bowling, Kevin M.; Cooper, Greg M.; Dorschner, Michael O.; Driscoll, Catherine; Foreman, Ann Katherine M.; Golden-Grant, Katie; Greally, John M.; Hindorff, Lucia; Kanavy, Dona; Jobanputra, Vaidehi; Johnston, Jennifer J.; Kenny, Eimear E.; McNulty, Shannon; Murali, Priyanka; Ou, Jeffrey; Powell, Bradford C.; Rehm, Heidi L.; Rolf, Bradley; Roman, Tamara S.; Van Ziffle, Jessica; Guha, Saurav; [...]

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

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Elsevier BV, 2020

Published in: The American Journal of Human Genetics
Lopez-Perolio, Irene; Leman, Raphaël; Behar, Raquel; Lattimore, Vanessa; Pearson, John F; Castéra, Laurent; Martins, Alexandra; Vaur, Dominique; Goardon, Nicolas; Davy, Grégoire; Garre, Pilar; García-Barberán, Vanesa; Llovet, Patricia; Pérez-Segura, Pedro; Díaz-Rubio, Eduardo; Caldés, Trinidad; Hruska, Kathleen S; Hsuan, Vickie; Wu, Sitao; Pesaran, Tina; Karam, Rachid; Vallon-Christersson, Johan; Borg, Ake; Investigators, kConFab; [...]

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

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BMJ, 2019

Published in: Journal of Medical Genetics
Nykamp, Keith; Anderson, Michael; Powers, Martin; Garcia, John; Herrera, Blanca; Ho, Yuan-Yuan; Kobayashi, Yuya; Patil, Nila; Thusberg, Janita; Westbrook, Marjorie; The Invitae Clinical Genomics Group; Topper, Scott

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

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Elsevier BV, 2017

Published in: Genetics in Medicine
Fortuno, Cristina; Michailidou, Kyriaki; Parsons, Michael; Dolinsky, Jill S; Pesaran, Tina; Yussuf, Amal; Mester, Jessica L; Hruska, Kathleen S; Hiraki, Susan; O’Connor, Robert; Chan, Raymond C; Kim, Serra; Tavtigian, Sean V; Goldgar, David; James, Paul A; Spurdle, Amanda B

Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines

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Oxford University Press (OUP), 2024

Published in: Human Molecular Genetics
Mayowa Osundiji; Jessie Cameron; Rory Olson; Bukola Olarewaju; Andreas Schulze

P046: ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics

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2024

Published in: Genetics in Medicine Open
‘Splicing predictions, minigene analyses, and ACMG‐AMP clinical classification of 42 germline PALB2 splice‐site variants’

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Wiley, 2023

Published in: The Journal of Pathology
Preston, Christine G.; Wright, Matt W.; Madhavrao, Rao; Harrison, Steven M.; Goldstein, Jennifer L.; Luo, Xi; Wand, Hannah; Wulf, Bryan; Cheung, Gloria; Mandell, Mark E.; Tong, Howard; Cheng, Shaung; Iacocca, Michael A.; Pineda, Arturo Lopez; Popejoy, Alice B.; Dalton, Karen; Zhen, Jimmy; Dwight, Selina S.; Babb, Lawrence; DiStefano, Marina; O’Daniel, Julianne M.; Lee, Kristy; Riggs, Erin R.; Zastrow, Diane B.; [...]

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

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Springer Science and Business Media LLC, 2022

Published in: Genome Medicine

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