These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
130 related articles for article (PubMed ID: 24375697)
21. UNDR ROVER - a fast and accurate variant caller for targeted DNA sequencing. Park DJ; Li R; Lau E; Georgeson P; Nguyen-Dumont T; Pope BJ BMC Bioinformatics; 2016 Apr; 17():165. PubMed ID: 27083325 [TBL] [Abstract][Full Text] [Related]
22. FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets. Pope BJ; Nguyen-Dumont T; Odefrey F; Hammet F; Bell R; Tao K; Tavtigian SV; Goldgar DE; Lonie A; Southey MC; Park DJ BMC Bioinformatics; 2013 Feb; 14():65. PubMed ID: 23441864 [TBL] [Abstract][Full Text] [Related]
27. Exome screening to identify loss-of-function mutations in the rhesus macaque for development of preclinical models of human disease. Cornish AS; Gibbs RM; Norgren RB BMC Genomics; 2016 Mar; 17():170. PubMed ID: 26935327 [TBL] [Abstract][Full Text] [Related]
28. Detection of rare genomic variants from pooled sequencing using SPLINTER. Vallania F; Ramos E; Cresci S; Mitra RD; Druley TE J Vis Exp; 2012 Jun; (64):. PubMed ID: 22760212 [TBL] [Abstract][Full Text] [Related]
29. Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Johnston JJ; Rubinstein WS; Facio FM; Ng D; Singh LN; Teer JK; Mullikin JC; Biesecker LG Am J Hum Genet; 2012 Jul; 91(1):97-108. PubMed ID: 22703879 [TBL] [Abstract][Full Text] [Related]
30. Global inference of disease-causing single nucleotide variants from exome sequencing data. Wu M; Chen T; Jiang R BMC Bioinformatics; 2016 Dec; 17(Suppl 17):468. PubMed ID: 28155632 [TBL] [Abstract][Full Text] [Related]
31. CSA: an efficient algorithm to improve circular DNA multiple alignment. Fernandes F; Pereira L; Freitas AT BMC Bioinformatics; 2009 Jul; 10():230. PubMed ID: 19627599 [TBL] [Abstract][Full Text] [Related]
32. SV2: accurate structural variation genotyping and de novo mutation detection from whole genomes. Antaki D; Brandler WM; Sebat J Bioinformatics; 2018 May; 34(10):1774-1777. PubMed ID: 29300834 [TBL] [Abstract][Full Text] [Related]
33. Fast read alignment with incorporation of known genomic variants. Guo H; Liu B; Guan D; Fu Y; Wang Y BMC Med Inform Decis Mak; 2019 Dec; 19(Suppl 6):265. PubMed ID: 31856811 [TBL] [Abstract][Full Text] [Related]
34. The complete genome of an individual by massively parallel DNA sequencing. Wheeler DA; Srinivasan M; Egholm M; Shen Y; Chen L; McGuire A; He W; Chen YJ; Makhijani V; Roth GT; Gomes X; Tartaro K; Niazi F; Turcotte CL; Irzyk GP; Lupski JR; Chinault C; Song XZ; Liu Y; Yuan Y; Nazareth L; Qin X; Muzny DM; Margulies M; Weinstock GM; Gibbs RA; Rothberg JM Nature; 2008 Apr; 452(7189):872-6. PubMed ID: 18421352 [TBL] [Abstract][Full Text] [Related]
35. Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencing. Eriguchi Y; Kuwabara H; Inai A; Kawakubo Y; Nishimura F; Kakiuchi C; Tochigi M; Ohashi J; Aoki N; Kato K; Ishiura H; Mitsui J; Tsuji S; Doi K; Yoshimura J; Morishita S; Shimada T; Furukawa M; Umekage T; Sasaki T; Kasai K; KanoMD PhD Y Am J Med Genet B Neuropsychiatr Genet; 2017 Oct; 174(7):712-723. PubMed ID: 28608572 [TBL] [Abstract][Full Text] [Related]
36. Progress in detecting genetic alterations and their association with human disease. Schwartz CE; Chen CF J Mol Biol; 2013 Nov; 425(21):3914-8. PubMed ID: 23876707 [TBL] [Abstract][Full Text] [Related]
37. SNooPer: a machine learning-based method for somatic variant identification from low-pass next-generation sequencing. Spinella JF; Mehanna P; Vidal R; Saillour V; Cassart P; Richer C; Ouimet M; Healy J; Sinnett D BMC Genomics; 2016 Nov; 17(1):912. PubMed ID: 27842494 [TBL] [Abstract][Full Text] [Related]
38. SeqHBase: a big data toolset for family based sequencing data analysis. He M; Person TN; Hebbring SJ; Heinzen E; Ye Z; Schrodi SJ; McPherson EW; Lin SM; Peissig PL; Brilliant MH; O'Rawe J; Robison RJ; Lyon GJ; Wang K J Med Genet; 2015 Apr; 52(4):282-8. PubMed ID: 25587064 [TBL] [Abstract][Full Text] [Related]
39. Robust and exact structural variation detection with paired-end and soft-clipped alignments: SoftSV compared with eight algorithms. Bartenhagen C; Dugas M Brief Bioinform; 2016 Jan; 17(1):51-62. PubMed ID: 25998133 [TBL] [Abstract][Full Text] [Related]
40. BAYSIC: a Bayesian method for combining sets of genome variants with improved specificity and sensitivity. Cantarel BL; Weaver D; McNeill N; Zhang J; Mackey AJ; Reese J BMC Bioinformatics; 2014 Apr; 15():104. PubMed ID: 24725768 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]