AmpliVar: mutation detection in high-throughput sequence from amplicon-based libraries.

Hsu, Arthur L; Kondrashova, Olga; Lunke, Sebastian; Love, Clare J; Meldrum, Cliff; Marquis-Nicholson, Renate; Corboy, Greg; Pham, Kym; Wakefield, Matthew; Waring, Paul M; Taylor, Graham R

Hsu, Arthur L; Kondrashova, Olga; Lunke, Sebastian; Love, Clare J; Meldrum, Cliff; Marquis-Nicholson, Renate; Corboy, Greg; Pham, Kym; Wakefield, Matthew; Waring, Paul M; Taylor, Graham R.

Affiliation

Hsu AL; Department of Pathology, The University of Melbourne, Parkville, Victoria, Australia.

Hum Mutat ; 36(4): 411-8, 2015 Apr.

Article in En | MEDLINE | ID: mdl-25664426

Subject(s)

DNA Mutational Analysis/methods; Genomics/methods; Software; Computational Biology/methods; Gene Library; Genetic Variation; Genotyping Techniques; High-Throughput Nucleotide Sequencing; Humans; Internet; Mutation; Nucleic Acid Amplification Techniques

Key words

amplicon sequencing; grouped reads; mutation detection; next generation sequencing

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Full text: 1 Database: MEDLINE Main subject: Software / DNA Mutational Analysis / Genomics Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2015 Type: Article Affiliation country: Australia

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