88 related articles for article (PubMed ID: 25834947)
1. The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories.
Pepin MG; Murray ML; Bailey S; Leistritz-Kessler D; Schwarze U; Byers PH
Genet Med; 2016 Jan; 18(1):20-4. PubMed ID: 25834947
[TBL] [Abstract][Full Text] [Related]
2. A taxonomic schema of potential pitfalls in clinical variant analysis based on real-world evidence.
Coovadia A; Boccuto L; Chang Y; DeLuca J
PLoS One; 2023; 18(11):e0295010. PubMed ID: 38032981
[TBL] [Abstract][Full Text] [Related]
3. Exploring the importance of case-level clinical information for variant interpretation.
Berg JS
Genet Med; 2017 Jan; 19(1):3-5. PubMed ID: 27561084
[No Abstract] [Full Text] [Related]
4. Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
Maxwell KN; Hart SN; Vijai J; Schrader KA; Slavin TP; Thomas T; Wubbenhorst B; Ravichandran V; Moore RM; Hu C; Guidugli L; Wenz B; Domchek SM; Robson ME; Szabo C; Neuhausen SL; Weitzel JN; Offit K; Couch FJ; Nathanson KL
Am J Hum Genet; 2016 May; 98(5):801-817. PubMed ID: 27153395
[TBL] [Abstract][Full Text] [Related]
5. Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM; Dolinsky JS; Knight Johnson AE; Pesaran T; Azzariti DR; Bale S; Chao EC; Das S; Vincent L; Rehm HL
Genet Med; 2017 Oct; 19(10):1096-1104. PubMed ID: 28301460
[TBL] [Abstract][Full Text] [Related]
6. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Amendola LM; Jarvik GP; Leo MC; McLaughlin HM; Akkari Y; Amaral MD; Berg JS; Biswas S; Bowling KM; Conlin LK; Cooper GM; Dorschner MO; Dulik MC; Ghazani AA; Ghosh R; Green RC; Hart R; Horton C; Johnston JJ; Lebo MS; Milosavljevic A; Ou J; Pak CM; Patel RY; Punj S; Richards CS; Salama J; Strande NT; Yang Y; Plon SE; Biesecker LG; Rehm HL
Am J Hum Genet; 2016 Jun; 98(6):1067-1076. PubMed ID: 27181684
[TBL] [Abstract][Full Text] [Related]
7. Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K; Anderson M; Powers M; Garcia J; Herrera B; Ho YY; Kobayashi Y; Patil N; Thusberg J; Westbrook M; ; Topper S
Genet Med; 2017 Oct; 19(10):1105-1117. PubMed ID: 28492532
[TBL] [Abstract][Full Text] [Related]
8. Revisiting the morbid genome of Mendelian disorders.
Abouelhoda M; Faquih T; El-Kalioby M; Alkuraya FS
Genome Biol; 2016 Nov; 17(1):235. PubMed ID: 27884173
[TBL] [Abstract][Full Text] [Related]
9. ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
Gelb BD; Cavé H; Dillon MW; Gripp KW; Lee JA; Mason-Suares H; Rauen KA; Williams B; Zenker M; Vincent LM;
Genet Med; 2018 Nov; 20(11):1334-1345. PubMed ID: 29493581
[TBL] [Abstract][Full Text] [Related]
10. Clinical Interpretation of Sequence Variants.
Zhang J; Yao Y; He H; Shen J
Curr Protoc Hum Genet; 2020 Jun; 106(1):e98. PubMed ID: 32176464
[TBL] [Abstract][Full Text] [Related]
11. Updated recommendation for the benign stand-alone ACMG/AMP criterion.
Ghosh R; Harrison SM; Rehm HL; Plon SE; Biesecker LG;
Hum Mutat; 2018 Nov; 39(11):1525-1530. PubMed ID: 30311383
[TBL] [Abstract][Full Text] [Related]
12. Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD).
Wang K; Zhao S; Zhang Q; Yuan J; Liu J; Ding X; Song X; Lin J; Du R; Zhou Y; Sugimoto M; Chen W; Yuan B; Liu J; Yan Z; Liu B; Zhang Y; Li X; Niu Y; Long B; Shen Y; Zhang S; Abe K; Su J; Wu Z; Wu N; Liu P; Yang X;
J Hum Genet; 2018 Nov; 63(11):1119-1128. PubMed ID: 30115950
[TBL] [Abstract][Full Text] [Related]
13. Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S; Zhong M; Huang Y; Zhang Q; Chen T; Xu X; Peng W; Wang X; Feng X; Kang L; Lu Y; Cheng J; Bu F; Yuan H
Genome Med; 2023 Dec; 15(1):116. PubMed ID: 38111038
[TBL] [Abstract][Full Text] [Related]
14. Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines.
Kim SW; Kim B; Kim Y; Lee KA
Ann Lab Med; 2024 May; 44(3):271-278. PubMed ID: 37840311
[TBL] [Abstract][Full Text] [Related]
15. Clinical implications of conflicting variant interpretations in the cancer genetics clinic.
Zukin E; Culver JO; Liu Y; Yang Y; Ricker CN; Hodan R; Sturgeon D; Kingham K; Chun NM; Rowe-Teeter C; Singh K; Zell JA; Ladabaum U; McDonnell KJ; Ford JM; Parmigiani G; Braun D; Kurian AW; Gruber SB; Idos GE
Genet Med; 2023 Jul; 25(7):100837. PubMed ID: 37057674
[TBL] [Abstract][Full Text] [Related]
16. Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.
Palmquist R; Jenkins SM; Bentley D; Miller C; Mao R; Meibos B; Bayrak-Toydemir P; Tvrdik T; Nadauld LD; Bleyl SB; Chowdhury S; Ostrander B; Flores-Daboub J; Longo N; Tristani-Firouzi M; Hobbs C; Bonkowsky JL; Brunelli L
Pediatr Res; 2022 Nov; 92(5):1364-1369. PubMed ID: 35115709
[TBL] [Abstract][Full Text] [Related]
17. Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting.
Cristofoli F; Sorrentino E; Guerri G; Miotto R; Romanelli R; Zulian A; Cecchin S; Paolacci S; Miertus J; Bertelli M; Maltese PE; Chiurazzi P; Stuppia L; Castori M; Marceddu G
Genes (Basel); 2021 Nov; 12(12):. PubMed ID: 34946832
[TBL] [Abstract][Full Text] [Related]
18. Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.
Khan RS; Pahl E; Dellefave-Castillo L; Rychlik K; Ing A; Yap KL; Brew C; Johnston JR; McNally EM; Webster G
J Am Heart Assoc; 2022 Jan; 11(1):e022854. PubMed ID: 34935411
[TBL] [Abstract][Full Text] [Related]
19. Quantification of Discordant Variant Interpretations in a Large Family-Based Study of Li-Fraumeni Syndrome.
Frone MN; Stewart DR; Savage SA; Khincha PP
JCO Precis Oncol; 2021; 5():. PubMed ID: 34805717
[TBL] [Abstract][Full Text] [Related]
20. Genomics pipelines to investigate susceptibility in whole genome and exome sequenced data for variant discovery, annotation, prediction and genotyping.
Ahmed Z; Renart EG; Zeeshan S
PeerJ; 2021; 9():e11724. PubMed ID: 34395068
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
