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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 1
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1998 1
1999 2
2001 2
2002 4
2003 3
2004 15
2005 21
2006 17
2007 16
2008 15
2009 19
2010 14
2011 15
2012 19
2013 18
2014 21
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2019 17
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356 results

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Page 1
Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.
Fraile-Bethencourt E, Valenzuela-Palomo A, Díez-Gómez B, Goina E, Acedo A, Buratti E, Velasco EA. Fraile-Bethencourt E, et al. J Pathol. 2019 Aug;248(4):409-420. doi: 10.1002/path.5268. Epub 2019 Apr 23. J Pathol. 2019. PMID: 30883759 Free article.
DNA variants from mutational databases were analyzed by NNSplice and Human Splicing Finder softwares. To refine ESE-variant prediction, we mapped the regulatory regions through a functional strategy whereby 26 exonic microdeletions were introduced into the minigene and …
DNA variants from mutational databases were analyzed by NNSplice and Human Splicing Finder softwares. To refine ESE-variant predictio …
Utilizing non-invasive prenatal test sequencing data for human genetic investigation.
Liu S, Liu Y, Gu Y, Lin X, Zhu H, Liu H, Xu Z, Cheng S, Lan X, Li L, Huang M, Li H, Nielsen R, Davies RW, Albrechtsen A, Chen GB, Qiu X, Jin X, Huang S. Liu S, et al. Cell Genom. 2024 Oct 9;4(10):100669. doi: 10.1016/j.xgen.2024.100669. Cell Genom. 2024. PMID: 39389018 Free PMC article.
Here, we present methods for analyzing large-scale, low-depth NIPT data, including customized algorithms and software for genetic variant detection, genotype imputation, family relatedness, population structure inference, and genome-wide association analysis …
Here, we present methods for analyzing large-scale, low-depth NIPT data, including customized algorithms and software for g …
Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.
Srivastava AK, Wang Y, Huang R, Skinner C, Thompson T, Pollard L, Wood T, Luo F, Stevenson R, Polimanti R, Gelernter J, Lin X, Lim IY, Wu Y, Teh AL, Chen L, Aris IM, Soh SE, Tint MT, MacIsaac JL, Yap F, Kwek K, Saw SM, Kobor MS, Meaney MJ, Godfrey KM, Chong YS, Holbrook JD, Lee YS, Gluckman PD, Karnani N; GUSTO study group; Kapoor A, Lee D, Chakravarti A, Maercker C, Graf F, Boutros M, Stamoulis G, Santoni F, Makrythanasis P, Letourneau A, Guipponi M, Panousis N, Garieri M, Ribaux P, Falconnet E, Borel C, Antonarakis SE, Kumar S, Curran J, Blangero J, Chatterjee S, Kapoor A, Akiyama J, Auer D, Berrios C, Pennacchio L, Chakravarti A, Donti TR, Cappuccio G, Miller M, Atwal P, Kennedy A, Cardon A, Bacino C, Emrick L, Hertecant J, Baumer F, Porter B, Bainbridge M, Bonnen P, Graham B, Sutton R, Sun Q, Elsea S, Hu Z, Wang P, Zhu Y, Zhao J, Xiong M, Bennett DA, Hidalgo-Miranda A, Romero-Cordoba S, Rodriguez-Cuevas S, Rebollar-Vega R, Tagliabue E, Iorio M, D’Ippolito E, Baroni S, Kaczkowski B, Tanaka Y, Kawaji H, Sandelin A, Andersson R, Itoh M, Lassmann T; The FANTOM5 Consortium; Hayashizaki Y, Carninci P, Forrest ARR, Semple CA, Rosenthal EA, Shirts B, Amendola L, Gallego C, Horike-Pyne… See abstract for full author list ➔ Srivastava AK, et al. Hum Genomics. 2016 May 26;10 Suppl 1(Suppl 1):12. doi: 10.1186/s40246-016-0063-5. Hum Genomics. 2016. PMID: 27294413 Free PMC article.
Keck, J. Chuang, E. T. Liu O16 Modeling genetic interactions associated with molecular subtypes of breast cancer B. Ji, A. Tyler, G. ...Jimenez, A. Medina, A. Hidalgo, J. Mejia P28 Genetic modifiers of Alstrom syndrome J. Naggert, G. B. Collin, K. DeMauro, R. Hanuse …
Keck, J. Chuang, E. T. Liu O16 Modeling genetic interactions associated with molecular subtypes of breast cancer B. Ji, A. Tyler, G. …
Determining the effects of genetic linkage when using a combination of STR and SNP loci for kinship testing.
Yang D, Ma SX, Zhao GL, Gao A, Xu ZK. Yang D, et al. Leg Med (Tokyo). 2024 Jul;69:102441. doi: 10.1016/j.legalmed.2024.102441. Epub 2024 Apr 4. Leg Med (Tokyo). 2024. PMID: 38599008
GeneVisa is a software for kinship testing (www.genevisa.net) and adopts the Lander-Green algorithm to deal with genetic linkage. Herein, we used the simulation program of the software GeneVisa to investigate the effects of genetic linkag …
GeneVisa is a software for kinship testing (www.genevisa.net) and adopts the Lander-Green algorithm to deal with genetic …
TELLBASE: a novel tool of TELL-seq barcode-assisted scaffold assembler for bacterial genomes.
Li Y, Kuang T, Xu T, Du H, Zhang Y, Qian Y, Chen Y, Xiao Z, Chen C, Wu J, Zhang WH, Lu C, Jiang N. Li Y, et al. Brief Bioinform. 2025 Aug 31;26(5):bbaf504. doi: 10.1093/bib/bbaf504. Brief Bioinform. 2025. PMID: 41016011 Free PMC article.
Unlike mate-pair sequencing technology, TELL-seq employs a near-full-sequence tagging strategy that allows more efficient capture of comprehensive genomic information. However, assembly algorithms and software capable of fully leveraging the characteristics of TELL- …
Unlike mate-pair sequencing technology, TELL-seq employs a near-full-sequence tagging strategy that allows more efficient capture of compreh …
Gene set analysis: A step-by-step guide.
Mooney MA, Wilmot B. Mooney MA, et al. Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):517-27. doi: 10.1002/ajmg.b.32328. Epub 2015 Jun 8. Am J Med Genet B Neuropsychiatr Genet. 2015. PMID: 26059482 Free PMC article. Review.
Although methods for gene-set analyses (GSA), also called pathway analyses, have been around for more than a decade, the field is still evolving. There are numerous algorithms available for testing the cumulative effect of multiple SNPs, yet no real consensus …
Although methods for gene-set analyses (GSA), also called pathway analyses, have been around for more than a decade, the field is still evol …
Improved ant algorithms for software testing cases generation.
Yang S, Man T, Xu J. Yang S, et al. ScientificWorldJournal. 2014;2014:392309. doi: 10.1155/2014/392309. Epub 2014 May 5. ScientificWorldJournal. 2014. PMID: 24883391 Free PMC article.
Existing ant colony optimization (ACO) for software testing cases generation is a very popular domain in software testing engineering. ...The proposed technique will be compared with random algorithm (RND) and genetic algorithm (GA) in terms of …
Existing ant colony optimization (ACO) for software testing cases generation is a very popular domain in software te …
W-Test for Genetic Epistasis Testing.
Sun R, Weng H, Wang MH. Sun R, et al. Methods Mol Biol. 2021;2212:45-53. doi: 10.1007/978-1-0716-0947-7_4. Methods Mol Biol. 2021. PMID: 33733349
The genetic epistasis effect has been widely acknowledged as an essential contributor to genetic variation in complex diseases. In this chapter, we introduce a powerful and efficient statistical method, called W-test, for genetic epistasis testing …
The genetic epistasis effect has been widely acknowledged as an essential contributor to genetic variation in complex d …
eConsulting.
Liaw ST, Schattner P. Liaw ST, et al. Methods Mol Med. 2008;141:353-73. doi: 10.1007/978-1-60327-148-6_19. Methods Mol Med. 2008. PMID: 18453099
It can also improve the efficiency and effectiveness of the specialist and generalist workforce and accessibility to the services provided. ...
It can also improve the efficiency and effectiveness of the specialist and generalist workforce and accessibility to the services pro …
Assembling and Validating Bioinformatic Pipelines for Next-Generation Sequencing Clinical Assays.
SoRelle JA, Wachsmann M, Cantarel BL. SoRelle JA, et al. Arch Pathol Lab Med. 2020 Sep 1;144(9):1118-1130. doi: 10.5858/arpa.2019-0476-RA. Arch Pathol Lab Med. 2020. PMID: 32045276 Free article. Review.
Clinical NGS results rely heavily on the bioinformatics pipeline for identifying genetic variation in complex samples. The choice of bioinformatics algorithms, genome assembly, and genetic annotation databases are important for determining genetic alte …
Clinical NGS results rely heavily on the bioinformatics pipeline for identifying genetic variation in complex samples. The choice of …
356 results