HaploForge: a comprehensive pedigree drawing and haplotype visualization web application | Zendy

Mehmet Tekman | Zendy; Alan Medlar | Zendy; Monika Mozere | Zendy; Robert Kleta | Zendy; Horia Stanescu | Zendy

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HaploForge: a comprehensive pedigree drawing and haplotype visualization web application

Author(s) -

Mehmet Tekman,

Alan Medlar,

Monika Mozere,

Robert Kleta,

Horia Stanescu

Publication year - 2017

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btx510

Subject(s) - haplotype , visualization , computer science , world wide web , web application , data mining , biology , genetics , allele , gene

Haplotype reconstruction is an important tool for understanding the aetiology of human disease. Haplotyping infers the most likely phase of observed genotypes conditional on constraints imposed by the genotypes of other pedigree members. The results of haplotype reconstruction, when visualized appropriately, show which alleles are identical by descent despite the presence of untyped individuals. When used in concert with linkage analysis, haplotyping can help delineate a locus of interest and provide a succinct explanation for the transmission of the trait locus. Unfortunately, the design choices made by existing haplotype visualization programs do not scale to large numbers of markers. Indeed, following haplotypes from generation to generation requires excessive scrolling back and forth. In addition, the most widely used program for haplotype visualization produces inconsistent recombination artefacts for the X chromosome.

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