380 related articles for article (PubMed ID: 28655339)
21. SNPfisher: tools for probing genetic variation in laboratory-reared zebrafish.
Butler MG; Iben JR; Marsden KC; Epstein JA; Granato M; Weinstein BM
Development; 2015 Apr; 142(8):1542-52. PubMed ID: 25813542
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. VAT: a computational framework to functionally annotate variants in personal genomes within a cloud-computing environment.
Habegger L; Balasubramanian S; Chen DZ; Khurana E; Sboner A; Harmanci A; Rozowsky J; Clarke D; Snyder M; Gerstein M
Bioinformatics; 2012 Sep; 28(17):2267-9. PubMed ID: 22743228
[TBL] [Abstract][Full Text] [Related]
24. Integrating massively parallel sequencing into diagnostic workflows and managing the annotation and clinical interpretation challenge.
Kassahn KS; Scott HS; Caramins MC
Hum Mutat; 2014 Apr; 35(4):413-23. PubMed ID: 24510514
[TBL] [Abstract][Full Text] [Related]
25. Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline.
Lee IH; Lee K; Hsing M; Choe Y; Park JH; Kim SH; Bohn JM; Neu MB; Hwang KB; Green RC; Kohane IS; Kong SW
Hum Mutat; 2014 May; 35(5):537-47. PubMed ID: 24478219
[TBL] [Abstract][Full Text] [Related]
26. Vanno: a visualization-aided variant annotation tool.
Huang PJ; Lee CC; Tan BC; Yeh YM; Huang KY; Gan RC; Chen TW; Lee CY; Yang ST; Liao CS; Liu H; Tang P
Hum Mutat; 2015 Feb; 36(2):167-74. PubMed ID: 25196204
[TBL] [Abstract][Full Text] [Related]
27. SeqAnt: a web service to rapidly identify and annotate DNA sequence variations.
Shetty AC; Athri P; Mondal K; Horner VL; Steinberg KM; Patel V; Caspary T; Cutler DJ; Zwick ME
BMC Bioinformatics; 2010 Sep; 11():471. PubMed ID: 20854673
[TBL] [Abstract][Full Text] [Related]
28. [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]
29. BioBin: a bioinformatics tool for automating the binning of rare variants using publicly available biological knowledge.
Moore CB; Wallace JR; Frase AT; Pendergrass SA; Ritchie MD
BMC Med Genomics; 2013; 6 Suppl 2(Suppl 2):S6. PubMed ID: 23819467
[TBL] [Abstract][Full Text] [Related]
30. Analysis of pathogenic variants from the ClinVar database in healthy people using next-generation sequencing.
Rančelis T; Arasimavičius J; Ambrozaitytė L; Kavaliauskienė I; Domarkienė I; Karčiauskaitė D; Kučinskienė ZA; Kučinskas V
Genet Res (Camb); 2017 Aug; 99():e6. PubMed ID: 28851476
[TBL] [Abstract][Full Text] [Related]
31. The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition.
Lee IH; Negron JA; Hernandez-Ferrer C; Alvarez WJ; Mandl KD; Kong SW
Hum Mutat; 2020 Feb; 41(2):387-396. PubMed ID: 31691385
[TBL] [Abstract][Full Text] [Related]
32. Bioinformatics Analysis of Whole Exome Sequencing Data.
Ulintz PJ; Wu W; Gates CM
Methods Mol Biol; 2019; 1881():277-318. PubMed ID: 30350213
[TBL] [Abstract][Full Text] [Related]
33. A practical guide to filtering and prioritizing genetic variants.
Jalali Sefid Dashti M; Gamieldien J
Biotechniques; 2017 Jan; 62(1):18-30. PubMed ID: 28118812
[TBL] [Abstract][Full Text] [Related]
34. Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection.
Stubbs A; McClellan EA; Horsman S; Hiltemann SD; Palli I; Nouwens S; Koning AH; Hoogland F; Reumers J; Heijsman D; Swagemakers S; Kremer A; Meijerink J; Lambrechts D; van der Spek PJ
J Clin Bioinforma; 2012 Nov; 2(1):19. PubMed ID: 23164068
[TBL] [Abstract][Full Text] [Related]
35. ASEQ: fast allele-specific studies from next-generation sequencing data.
Romanel A; Lago S; Prandi D; Sboner A; Demichelis F
BMC Med Genomics; 2015 Mar; 8():9. PubMed ID: 25889339
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. SeqMule: automated pipeline for analysis of human exome/genome sequencing data.
Guo Y; Ding X; Shen Y; Lyon GJ; Wang K
Sci Rep; 2015 Sep; 5():14283. PubMed ID: 26381817
[TBL] [Abstract][Full Text] [Related]
38. VCF-Miner: GUI-based application for mining variants and annotations stored in VCF files.
Hart SN; Duffy P; Quest DJ; Hossain A; Meiners MA; Kocher JP
Brief Bioinform; 2016 Mar; 17(2):346-51. PubMed ID: 26210358
[TBL] [Abstract][Full Text] [Related]
39. MACARON: a python framework to identify and re-annotate multi-base affected codons in whole genome/exome sequence data.
Khan W; Varma Saripella G; Ludwig T; Cuppens T; Thibord F; Génin E; Deleuze JF; Trégouët DA
Bioinformatics; 2018 Oct; 34(19):3396-3398. PubMed ID: 29726922
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
