166 related articles for article (PubMed ID: 31366397)
1. Beyond sequencing: re-visiting annotations for PJL as a test case.
Khan W; Ghani A; Azmi MB; Razzak SA
BMC Res Notes; 2019 Jul; 12(1):467. PubMed ID: 31366397
[TBL] [Abstract][Full Text] [Related]
2. Choice of transcripts and software has a large effect on variant annotation.
McCarthy DJ; Humburg P; Kanapin A; Rivas MA; Gaulton K; Cazier JB; Donnelly P
Genome Med; 2014; 6(3):26. PubMed ID: 24944579
[TBL] [Abstract][Full Text] [Related]
3. Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR.
Yang H; Wang K
Nat Protoc; 2015 Oct; 10(10):1556-66. PubMed ID: 26379229
[TBL] [Abstract][Full Text] [Related]
4. A variant by any name: quantifying annotation discordance across tools and clinical databases.
Yen JL; Garcia S; Montana A; Harris J; Chervitz S; Morra M; West J; Chen R; Church DM
Genome Med; 2017 Jan; 9(1):7. PubMed ID: 28122645
[TBL] [Abstract][Full Text] [Related]
5. Comparative assessments of indel annotations in healthy and cancer genomes with next-generation sequencing data.
Chen J; Guo JT
BMC Med Genomics; 2020 Nov; 13(1):170. PubMed ID: 33167946
[TBL] [Abstract][Full Text] [Related]
6. Variations in Nomenclature of Clinical Variants between Annotation Tools.
Park KJ; Park JH
Lab Med; 2022 May; 53(3):242-245. PubMed ID: 34612497
[TBL] [Abstract][Full Text] [Related]
7. Deep sequencing of Danish Holstein dairy cattle for variant detection and insight into potential loss-of-function variants in protein coding genes.
Das A; Panitz F; Gregersen VR; Bendixen C; Holm LE
BMC Genomics; 2015 Dec; 16():1043. PubMed ID: 26645365
[TBL] [Abstract][Full Text] [Related]
8. A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree.
Eberle MA; Fritzilas E; Krusche P; Källberg M; Moore BL; Bekritsky MA; Iqbal Z; Chuang HY; Humphray SJ; Halpern AL; Kruglyak S; Margulies EH; McVean G; Bentley DR
Genome Res; 2017 Jan; 27(1):157-164. PubMed ID: 27903644
[TBL] [Abstract][Full Text] [Related]
9. GASS: genome structural annotation for Eukaryotes based on species similarity.
Wang Y; Chen L; Song N; Lei X
BMC Genomics; 2015 Mar; 16(1):150. PubMed ID: 25764973
[TBL] [Abstract][Full Text] [Related]
10. KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses.
Kim J; Weber JA; Jho S; Jang J; Jun J; Cho YS; Kim HM; Kim H; Kim Y; Chung O; Kim CG; Lee H; Kim BC; Han K; Koh I; Chae KS; Lee S; Edwards JS; Bhak J
Sci Rep; 2018 Apr; 8(1):5677. PubMed ID: 29618732
[TBL] [Abstract][Full Text] [Related]
11. MAC: identifying and correcting annotation for multi-nucleotide variations.
Wei L; Liu LT; Conroy JR; Hu Q; Conroy JM; Morrison CD; Johnson CS; Wang J; Liu S
BMC Genomics; 2015 Aug; 16(1):569. PubMed ID: 26231518
[TBL] [Abstract][Full Text] [Related]
12. Single nucleotide variants and InDels identified from whole-genome re-sequencing of Guzerat, Gyr, Girolando and Holstein cattle breeds.
Stafuzza NB; Zerlotini A; Lobo FP; Yamagishi ME; Chud TC; Caetano AR; Munari DP; Garrick DJ; Machado MA; Martins MF; Carvalho MR; Cole JB; Barbosa da Silva MV
PLoS One; 2017; 12(3):e0173954. PubMed ID: 28323836
[TBL] [Abstract][Full Text] [Related]
13. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Wang K; Li M; Hakonarson H
Nucleic Acids Res; 2010 Sep; 38(16):e164. PubMed ID: 20601685
[TBL] [Abstract][Full Text] [Related]
14. High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios.
Byrska-Bishop M; Evani US; Zhao X; Basile AO; Abel HJ; Regier AA; Corvelo A; Clarke WE; Musunuri R; Nagulapalli K; Fairley S; Runnels A; Winterkorn L; Lowy E; ; Paul Flicek ; Germer S; Brand H; Hall IM; Talkowski ME; Narzisi G; Zody MC
Cell; 2022 Sep; 185(18):3426-3440.e19. PubMed ID: 36055201
[TBL] [Abstract][Full Text] [Related]
15. svclassify: a method to establish benchmark structural variant calls.
Parikh H; Mohiyuddin M; Lam HY; Iyer H; Chen D; Pratt M; Bartha G; Spies N; Losert W; Zook JM; Salit M
BMC Genomics; 2016 Jan; 17():64. PubMed ID: 26772178
[TBL] [Abstract][Full Text] [Related]
16. [Application of BIG-Annotator in the genome sequencing data functional annotation and genetic diagnosis].
Huang Y; Liu Q; Chi LJ; Shi CM; Wu Z; Hu M; Shi H; Chen H
Yi Chuan; 2018 Nov; 40(11):1015-1023. PubMed ID: 30465534
[TBL] [Abstract][Full Text] [Related]
17. India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin.
Zhang JF; James F; Shukla A; Girisha KM; Paciorkowski AR
BMC Res Notes; 2017 Jun; 10(1):233. PubMed ID: 28655339
[TBL] [Abstract][Full Text] [Related]
18. Functional annotation of genomic variants in studies of late-onset Alzheimer's disease.
Butkiewicz M; Blue EE; Leung YY; Jian X; Marcora E; Renton AE; Kuzma A; Wang LS; Koboldt DC; Haines JL; Bush WS
Bioinformatics; 2018 Aug; 34(16):2724-2731. PubMed ID: 29590295
[TBL] [Abstract][Full Text] [Related]
19. Indel sensitive and comprehensive variant/mutation detection from RNA sequencing data for precision medicine.
Prodduturi N; Bhagwate A; Kocher JA; Sun Z
BMC Med Genomics; 2018 Sep; 11(Suppl 3):67. PubMed ID: 30255803
[TBL] [Abstract][Full Text] [Related]
20. A uniform survey of allele-specific binding and expression over 1000-Genomes-Project individuals.
Chen J; Rozowsky J; Galeev TR; Harmanci A; Kitchen R; Bedford J; Abyzov A; Kong Y; Regan L; Gerstein M
Nat Commun; 2016 Apr; 7():11101. PubMed ID: 27089393
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]