GLASS: assisted and standardized assessment of gene variations from Sanger sequence trace data | Zendy

Karol Pál | Zendy; Vojtěch Bystrý | Zendy; Tomáš Reigl | Zendy; Martin Demko | Zendy; Adam Krejčí | Zendy; Tasoula Touloumenidou | Zendy; Evangelia Stalika | Zendy; Boris Tichý | Zendy; Paolo Ghia | Zendy; Κώστας Σταματόπουλος | Zendy; Šárka Pospı́šilová | Zendy; Jitka Malčíková | Zendy; Nikos Darzentas | Zendy

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GLASS: assisted and standardized assessment of gene variations from Sanger sequence trace data

Author(s) -

Karol Pál,

Vojtěch Bystrý,

Tomáš Reigl,

Martin Demko,

Adam Krejčí,

Tasoula Touloumenidou,

Evangelia Stalika,

Boris Tichý,

Paolo Ghia,

Κώστας Σταματόπουλος,

Šárka Pospı́šilová,

Jitka Malčíková,

Nikos Darzentas

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/btx423

Subject(s) - sanger sequencing , trace (psycholinguistics) , sequence (biology) , computer science , code (set theory) , source code , interpretation (philosophy) , information retrieval , computational biology , dna sequencing , gene , biology , genetics , programming language , linguistics , philosophy , set (abstract data type)

Sanger sequencing is still being employed for sequence variant detection by many laboratories, especially in a clinical setting. However, chromatogram interpretation often requires manual inspection and in some cases, considerable expertise.

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