Rapid and powerful detection of subtle allelic imbalance from exome sequencing data with hapLOHseq | Zendy

F. Anthony San Lucas | Zendy; Smruthy Sivakumar | Zendy; Selina Vattathil | Zendy; Jerry Fowler | Zendy; Eduardo Vilar | Zendy; Paul Scheet | Zendy

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Rapid and powerful detection of subtle allelic imbalance from exome sequencing data with hapLOHseq

Author(s) -

F. Anthony San Lucas,

Smruthy Sivakumar,

Selina Vattathil,

Jerry Fowler,

Eduardo Vilar,

Paul Scheet

Publication year - 2016

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/btw340

Subject(s) - exome sequencing , biology , allele , computational biology , exome , dna sequencing , genetics , gene , phenotype

The detection of subtle genomic allelic imbalance events has many potential applications. For example, identifying cancer-associated allelic imbalanced regions in low tumor-cellularity samples or in low-proportion tumor subclones can be used for early cancer detection, prognostic assessment and therapeutic selection in cancer patients. We developed hapLOHseq for the detection of subtle allelic imbalance events from next-generation sequencing data.

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