504 related articles for article (PubMed ID: 26494363)
1. Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment.
Shameer K; Tripathi LP; Kalari KR; Dudley JT; Sowdhamini R
Brief Bioinform; 2016 Sep; 17(5):841-62. PubMed ID: 26494363
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Current trend of annotating single nucleotide variation in humans--A case study on SNVrap.
Li MJ; Wang J
Methods; 2015 Jun; 79-80():32-40. PubMed ID: 25308971
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. An integrated approach for analyzing clinical genomic variant data from next-generation sequencing.
Crowgey EL; Stabley DL; Chen C; Huang H; Robbins KM; Polson SW; Sol-Church K; Wu CH
J Biomol Tech; 2015 Apr; 26(1):19-28. PubMed ID: 25649353
[TBL] [Abstract][Full Text] [Related]
6. Regulatory Single-Nucleotide Variant Predictor Increases Predictive Performance of Functional Regulatory Variants.
Peterson TA; Mort M; Cooper DN; Radivojac P; Kann MG; Mooney SD
Hum Mutat; 2016 Nov; 37(11):1137-1143. PubMed ID: 27406314
[TBL] [Abstract][Full Text] [Related]
7. Exploring the function of genetic variants in the non-coding genomic regions: approaches for identifying human regulatory variants affecting gene expression.
Li MJ; Yan B; Sham PC; Wang J
Brief Bioinform; 2015 May; 16(3):393-412. PubMed ID: 24916300
[TBL] [Abstract][Full Text] [Related]
8. A combined functional annotation score for non-synonymous variants.
Lopes MC; Joyce C; Ritchie GR; John SL; Cunningham F; Asimit J; Zeggini E
Hum Hered; 2012; 73(1):47-51. PubMed ID: 22261837
[TBL] [Abstract][Full Text] [Related]
9. MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis.
Yauy K; Baux D; Pegeot H; Van Goethem C; Mathieu C; Guignard T; Juntas Morales R; Lacourt D; Krahn M; Lehtokari VL; Bonne G; Tuffery-Giraud S; Koenig M; Cossée M
J Mol Diagn; 2018 Jul; 20(4):465-473. PubMed ID: 29689380
[TBL] [Abstract][Full Text] [Related]
10. Identification of causal sequence variants of disease in the next generation sequencing era.
Kingsley CB
Methods Mol Biol; 2011; 700():37-46. PubMed ID: 21204025
[TBL] [Abstract][Full Text] [Related]
11. Building a genome analysis pipeline to predict disease risk and prevent disease.
Bromberg Y
J Mol Biol; 2013 Nov; 425(21):3993-4005. PubMed ID: 23928561
[TBL] [Abstract][Full Text] [Related]
12. Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene.
Brunham LR; Singaraja RR; Pape TD; Kejariwal A; Thomas PD; Hayden MR
PLoS Genet; 2005 Dec; 1(6):e83. PubMed ID: 16429166
[TBL] [Abstract][Full Text] [Related]
13. Exome versus transcriptome sequencing in identifying coding region variants.
Ku CS; Wu M; Cooper DN; Naidoo N; Pawitan Y; Pang B; Iacopetta B; Soong R
Expert Rev Mol Diagn; 2012 Apr; 12(3):241-51. PubMed ID: 22468815
[TBL] [Abstract][Full Text] [Related]
14. Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction.
Frankish A; Uszczynska B; Ritchie GR; Gonzalez JM; Pervouchine D; Petryszak R; Mudge JM; Fonseca N; Brazma A; Guigo R; Harrow J
BMC Genomics; 2015; 16 Suppl 8(Suppl 8):S2. PubMed ID: 26110515
[TBL] [Abstract][Full Text] [Related]
15. Lake Louise mutation detection meeting 2013: clinical translation of next-generation sequencing requires optimization of workflows and interpretation of variants.
Smith A; Boycott KM; Jarinova O
Hum Mutat; 2014 Feb; 35(2):265-9. PubMed ID: 24282140
[TBL] [Abstract][Full Text] [Related]
16. Annotation of functional variation in personal genomes using RegulomeDB.
Boyle AP; Hong EL; Hariharan M; Cheng Y; Schaub MA; Kasowski M; Karczewski KJ; Park J; Hitz BC; Weng S; Cherry JM; Snyder M
Genome Res; 2012 Sep; 22(9):1790-7. PubMed ID: 22955989
[TBL] [Abstract][Full Text] [Related]
17. Predicting the functional consequences of non-synonymous DNA sequence variants--evaluation of bioinformatics tools and development of a consensus strategy.
Frousios K; Iliopoulos CS; Schlitt T; Simpson MA
Genomics; 2013 Oct; 102(4):223-8. PubMed ID: 23831115
[TBL] [Abstract][Full Text] [Related]
18. VannoPortal: multiscale functional annotation of human genetic variants for interrogating molecular mechanism of traits and diseases.
Huang D; Zhou Y; Yi X; Fan X; Wang J; Yao H; Sham PC; Hao J; Chen K; Li MJ
Nucleic Acids Res; 2022 Jan; 50(D1):D1408-D1416. PubMed ID: 34570217
[TBL] [Abstract][Full Text] [Related]
19. FAVOR: functional annotation of variants online resource and annotator for variation across the human genome.
Zhou H; Arapoglou T; Li X; Li Z; Zheng X; Moore J; Asok A; Kumar S; Blue EE; Buyske S; Cox N; Felsenfeld A; Gerstein M; Kenny E; Li B; Matise T; Philippakis A; Rehm HL; Sofia HJ; Snyder G; ; Weng Z; Neale B; Sunyaev SR; Lin X
Nucleic Acids Res; 2023 Jan; 51(D1):D1300-D1311. PubMed ID: 36350676
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
