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Items: 1 to 20 of 69

1.

ClinVar data parsing.

Zhang X, Minikel EV, O'Donnell-Luria AH, MacArthur DG, Ware JS, Weisburd B.

Wellcome Open Res. 2017 May 23;2:33. doi: 10.12688/wellcomeopenres.11640.1. eCollection 2017.

2.

ClinVar: public archive of relationships among sequence variation and human phenotype.

Landrum MJ, Lee JM, Riley GR, Jang W, Rubinstein WS, Church DM, Maglott DR.

Nucleic Acids Res. 2014 Jan;42(Database issue):D980-5. doi: 10.1093/nar/gkt1113. Epub 2013 Nov 14.

3.

ClinVar: improving access to variant interpretations and supporting evidence.

Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Jang W, Karapetyan K, Katz K, Liu C, Maddipatla Z, Malheiro A, McDaniel K, Ovetsky M, Riley G, Zhou G, Holmes JB, Kattman BL, Maglott DR.

Nucleic Acids Res. 2018 Jan 4;46(D1):D1062-D1067. doi: 10.1093/nar/gkx1153.

4.

Using ClinVar as a Resource to Support Variant Interpretation.

Harrison SM, Riggs ER, Maglott DR, Lee JM, Azzariti DR, Niehaus A, Ramos EM, Martin CL, Landrum MJ, Rehm HL.

Curr Protoc Hum Genet. 2016 Apr 1;89:8.16.1-8.16.23. doi: 10.1002/0471142905.hg0816s89.

5.

ClinVar: public archive of interpretations of clinically relevant variants.

Landrum MJ, Lee JM, Benson M, Brown G, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Hoover J, Jang W, Katz K, Ovetsky M, Riley G, Sethi A, Tully R, Villamarin-Salomon R, Rubinstein W, Maglott DR.

Nucleic Acids Res. 2016 Jan 4;44(D1):D862-8. doi: 10.1093/nar/gkv1222. Epub 2015 Nov 17.

6.

UniProt genomic mapping for deciphering functional effects of missense variants.

McGarvey PB, Nightingale A, Luo J, Huang H, Martin MJ, Wu C, Consortium U.

Hum Mutat. 2019 Jun;40(6):694-705. doi: 10.1002/humu.23738. Epub 2019 Apr 3.

7.

ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data.

Henrie A, Hemphill SE, Ruiz-Schultz N, Cushman B, DiStefano MT, Azzariti D, Harrison SM, Rehm HL, Eilbeck K.

Hum Mutat. 2018 Aug;39(8):1051-1060. doi: 10.1002/humu.23555. Epub 2018 Jun 21.

8.

hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update.

Wang M, Callenberg KM, Dalgleish R, Fedtsov A, Fox NK, Freeman PJ, Jacobs KB, Kaleta P, McMurry AJ, Prlić A, Rajaraman V, Hart RK.

Hum Mutat. 2018 Dec;39(12):1803-1813. doi: 10.1002/humu.23615. Epub 2018 Sep 5.

9.

Somatic cancer variant curation and harmonization through consensus minimum variant level data.

Ritter DI, Roychowdhury S, Roy A, Rao S, Landrum MJ, Sonkin D, Shekar M, Davis CF, Hart RK, Micheel C, Weaver M, Van Allen EM, Parsons DW, McLeod HL, Watson MS, Plon SE, Kulkarni S, Madhavan S; ClinGen Somatic Cancer Working Group.

Genome Med. 2016 Nov 4;8(1):117.

10.

Clinotator: analyzing ClinVar variation reports to prioritize reclassification efforts.

Butler Iii RR, Gejman PV.

Version 2. F1000Res. 2018 Apr 13 [revised 2018 Jan 1];7:462. doi: 10.12688/f1000research.14470.2. eCollection 2018.

11.

Estimating the mutational load for cardiovascular diseases in Pakistani population.

Shakeel M, Irfan M, Khan IA.

PLoS One. 2018 Feb 8;13(2):e0192446. doi: 10.1371/journal.pone.0192446. eCollection 2018.

12.

Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.

Rim JH, Lee JS, Jung J, Lee JH, Lee ST, Choi JR, Choi JY, Lee MG, Gee HY.

Sci Rep. 2019 Mar 14;9(1):4583. doi: 10.1038/s41598-019-41068-6.

13.

Secondary findings and carrier test frequencies in a large multiethnic sample.

Gambin T, Jhangiani SN, Below JE, Campbell IM, Wiszniewski W, Muzny DM, Staples J, Morrison AC, Bainbridge MN, Penney S, McGuire AL, Gibbs RA, Lupski JR, Boerwinkle E.

Genome Med. 2015 Jun 13;7(1):54. doi: 10.1186/s13073-015-0171-1. eCollection 2015.

14.

Identification of Misclassified ClinVar Variants via Disease Population Prevalence.

Shah N, Hou YC, Yu HC, Sainger R, Caskey CT, Venter JC, Telenti A.

Am J Hum Genet. 2018 Apr 5;102(4):609-619. doi: 10.1016/j.ajhg.2018.02.019.

15.

Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database.

Pérez-Palma E, Gramm M, Nürnberg P, May P, Lal D.

Nucleic Acids Res. 2019 Jul 2;47(W1):W99-W105. doi: 10.1093/nar/gkz411.

16.

ClinGen Allele Registry links information about genetic variants.

Pawliczek P, Patel RY, Ashmore LR, Jackson AR, Bizon C, Nelson T, Powell B, Freimuth RR, Strande N, Shah N, Paithankar S, Wright MW, Dwight S, Zhen J, Landrum M, McGarvey P, Babb L, Plon SE, Milosavljevic A; Clinical Genome (ClinGen) Resource.

Hum Mutat. 2018 Nov;39(11):1690-1701. doi: 10.1002/humu.23637.

17.

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.

Harrison SM, Dolinksy JS, Chen W, Collins CD, Das S, Deignan JL, Garber KB, Garcia J, Jarinova O, Knight Johnson AE, Koskenvuo JW, Lee H, Mao R, Mar-Heyming R, McFaddin AS, Moyer K, Nagan N, Rentas S, Santani AB, Seppälä EH, Shirts BH, Tidwell T, Topper S, Vincent LM, Vinette K, Rehm HL; ClinGen Sequence Variant Inter-Laboratory Discrepancy Resolution Working Group.

Hum Mutat. 2018 Nov;39(11):1641-1649. doi: 10.1002/humu.23643.

PMID:
30311378
18.

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S, Lincoln SE, Kobayashi Y, Nykamp K, Nussbaum RL, Topper S.

Genet Med. 2017 Oct;19(10):1118-1126. doi: 10.1038/gim.2017.60. Epub 2017 Jun 1. Erratum in: Genet Med. 2017 Dec 07;:.

19.

Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia.

Barbitoff YA, Skitchenko RK, Poleshchuk OI, Shikov AE, Serebryakova EA, Nasykhova YA, Polev DE, Shuvalova AR, Shcherbakova IV, Fedyakov MA, Glotov OS, Glotov AS, Predeus AV.

Mol Genet Genomic Med. 2019 Sep 3:e964. doi: 10.1002/mgg3.964. [Epub ahead of print]

20.

Fast and Efficient XML Data Access for Next-Generation Mass Spectrometry.

Röst HL, Schmitt U, Aebersold R, Malmström L.

PLoS One. 2015 Apr 30;10(4):e0125108. doi: 10.1371/journal.pone.0125108. eCollection 2015.

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