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indelPost: harmonizing ambiguities in simple and complex indel alignments.
Hagiwara, Kohei; Edmonson, Michael N; Wheeler, David A; Zhang, Jinghui.
Afiliação
  • Hagiwara K; Computational Biology, St Jude Children's Research Hospital, Memphis, TN 38105, USA.
  • Edmonson MN; Computational Biology, St Jude Children's Research Hospital, Memphis, TN 38105, USA.
  • Wheeler DA; Computational Biology, St Jude Children's Research Hospital, Memphis, TN 38105, USA.
  • Zhang J; Computational Biology, St Jude Children's Research Hospital, Memphis, TN 38105, USA.
Bioinformatics ; 38(2): 549-551, 2022 01 03.
Article em En | MEDLINE | ID: mdl-34431982
ABSTRACT

SUMMARY:

Small insertions and deletions (indels) in nucleotide sequence may be represented differently between mapping algorithms and variant callers, or in the flanking sequence context. Representational ambiguity is especially profound for complex indels, complicating comparisons between multiple mappings and call sets. Complex indels may additionally suffer from incomplete allele representation, potentially leading to critical misannotation of variant effect. We present indelPost, a Python library that harmonizes these ambiguities for simple and complex indels via realignment and read-based phasing. We demonstrate that indelPost enables accurate analysis of ambiguous data and can derive the correct complex indel alleles from the simple indel predictions provided by standard small variant detectors, with improved performance over a specialized tool for complex indel analysis. AVAILABILITY AND IMPLEMENTATION indelPost is freely available at https//github.com/stjude/indelPost. SUPPLEMENTARY INFORMATION Supplementary data are available at Bioinformatics online.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Algoritmos / Software Idioma: En Revista: Bioinformatics Assunto da revista: INFORMATICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Algoritmos / Software Idioma: En Revista: Bioinformatics Assunto da revista: INFORMATICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos