289 related articles for article (PubMed ID: 34859531)
1. Variant interpretation using population databases: Lessons from gnomAD.
Gudmundsson S; Singer-Berk M; Watts NA; Phu W; Goodrich JK; Solomonson M; ; Rehm HL; MacArthur DG; O'Donnell-Luria A
Hum Mutat; 2022 Aug; 43(8):1012-1030. PubMed ID: 34859531
[TBL] [Abstract][Full Text] [Related]
2. Annotation of 1350 Common Genetic Variants of the 19 ALDH Multigene Family from Global Human Genome Aggregation Database (gnomAD).
Chen CH; Kraemer BR; Lee L; Mochly-Rosen D
Biomolecules; 2021 Sep; 11(10):. PubMed ID: 34680056
[TBL] [Abstract][Full Text] [Related]
3. Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.
Kobayashi Y; Yang S; Nykamp K; Garcia J; Lincoln SE; Topper SE
Genome Med; 2017 Feb; 9(1):13. PubMed ID: 28166811
[TBL] [Abstract][Full Text] [Related]
4. A genome-wide spectrum of tandem repeat expansions in 338,963 humans.
Cui Y; Ye W; Li JS; Li JJ; Vilain E; Sallam T; Li W
Cell; 2024 Apr; 187(9):2336-2341.e5. PubMed ID: 38582080
[TBL] [Abstract][Full Text] [Related]
5. Mitochondrial DNA variation across 56,434 individuals in gnomAD.
Laricchia KM; Lake NJ; Watts NA; Shand M; Haessly A; Gauthier L; Benjamin D; Banks E; Soto J; Garimella K; Emery J; ; Rehm HL; MacArthur DG; Tiao G; Lek M; Mootha VK; Calvo SE
Genome Res; 2022 Mar; 32(3):569-582. PubMed ID: 35074858
[TBL] [Abstract][Full Text] [Related]
6. Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD.
Zlotogora J; Patrinos GP; Meiner V
Genet Med; 2018 Aug; 20(8):867-871. PubMed ID: 29144512
[TBL] [Abstract][Full Text] [Related]
7. High prevalence of cancer-associated TP53 variants in the gnomAD database: A word of caution concerning the use of variant filtering.
Soussi T; Leroy B; Devir M; Rosenberg S
Hum Mutat; 2019 May; 40(5):516-524. PubMed ID: 30720243
[TBL] [Abstract][Full Text] [Related]
8. Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.
Avramović V; Frederiksen SD; Brkić M; Tarailo-Graovac M
Hum Genomics; 2021 Dec; 15(1):71. PubMed ID: 34906245
[TBL] [Abstract][Full Text] [Related]
9. Genome analysis and knowledge-driven variant interpretation with TGex.
Dahary D; Golan Y; Mazor Y; Zelig O; Barshir R; Twik M; Iny Stein T; Rosner G; Kariv R; Chen F; Zhang Q; Shen Y; Safran M; Lancet D; Fishilevich S
BMC Med Genomics; 2019 Dec; 12(1):200. PubMed ID: 31888639
[TBL] [Abstract][Full Text] [Related]
10. Interpreting variants in genes affected by clonal hematopoiesis in population data.
Gudmundsson S; Carlston CM; O'Donnell-Luria A
Hum Genet; 2024 Apr; 143(4):545-549. PubMed ID: 36739343
[TBL] [Abstract][Full Text] [Related]
11. Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database.
Hall CL; Sutanto H; Dalageorgou C; McKenna WJ; Syrris P; Futema M
Eur J Hum Genet; 2018 Sep; 26(9):1312-1318. PubMed ID: 29802319
[TBL] [Abstract][Full Text] [Related]
12. Re-evaluating pathogenicity of variants associated with the long QT syndrome.
Kaltman JR; Evans F; Fu YP
J Cardiovasc Electrophysiol; 2018 Jan; 29(1):98-104. PubMed ID: 28988457
[TBL] [Abstract][Full Text] [Related]
13. VariantAlert: A web-based tool to notify updates in genetic variant annotations.
Atzeni R; Massidda M; Fotia G; Uva P
Hum Mutat; 2022 Dec; 43(12):1808-1815. PubMed ID: 36300680
[TBL] [Abstract][Full Text] [Related]
14. Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variants.
Hanany M; Sharon D
J Med Genet; 2019 Aug; 56(8):536-542. PubMed ID: 30910914
[TBL] [Abstract][Full Text] [Related]
15. Loqusdb: added value of an observations database of local genomic variation.
Magnusson M; Eisfeldt J; Nilsson D; Rosenbaum A; Wirta V; Lindstrand A; Wedell A; Stranneheim H
BMC Bioinformatics; 2020 Jul; 21(1):273. PubMed ID: 32611382
[TBL] [Abstract][Full Text] [Related]
16. A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S; Francioli LC; Goodrich JK; Collins RL; Kanai M; Wang Q; Alföldi J; Watts NA; Vittal C; Gauthier LD; Poterba T; Wilson MW; Tarasova Y; Phu W; Grant R; Yohannes MT; Koenig Z; Farjoun Y; Banks E; Donnelly S; Gabriel S; Gupta N; Ferriera S; Tolonen C; Novod S; Bergelson L; Roazen D; Ruano-Rubio V; Covarrubias M; Llanwarne C; Petrillo N; Wade G; Jeandet T; Munshi R; Tibbetts K; ; O'Donnell-Luria A; Solomonson M; Seed C; Martin AR; Talkowski ME; Rehm HL; Daly MJ; Tiao G; Neale BM; MacArthur DG; Karczewski KJ
Nature; 2024 Jan; 625(7993):92-100. PubMed ID: 38057664
[TBL] [Abstract][Full Text] [Related]
17. Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
Bai D; Wang J; Li T; Chan R; Atalla M; Chen RC; Khazaneh MT; An RJ; Stathopulos PB
Int J Mol Sci; 2021 Jul; 22(15):. PubMed ID: 34360596
[TBL] [Abstract][Full Text] [Related]
18. DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.
Foreman J; Brent S; Perrett D; Bevan AP; Hunt SE; Cunningham F; Hurles ME; Firth HV
Hum Mutat; 2022 Jun; 43(6):682-697. PubMed ID: 35143074
[TBL] [Abstract][Full Text] [Related]
19. VarStack: a web tool for data retrieval to interpret somatic variants in cancer.
Howard M; Kane B; Lepry M; Stey P; Ragavendran A; Gamsiz Uzun ED
Database (Oxford); 2020 Nov; 2020():. PubMed ID: 33247936
[TBL] [Abstract][Full Text] [Related]
20. The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool.
Flygare S; Hernandez EJ; Phan L; Moore B; Li M; Fejes A; Hu H; Eilbeck K; Huff C; Jorde L; G Reese M; Yandell M
BMC Bioinformatics; 2018 Feb; 19(1):57. PubMed ID: 29463208
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]