Variant recognition without target reference genome

The disclosed technology relates to determining the feasibility of variant recognition of a sample of a target species using a reference genome of a non-target species. In particular, the disclosed technology involves mapping sequencing reads of a sample of target species to a reference genome of no...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: MCMASTER-SCHREIBER, JUDITH, G., J, HAMPE THOMAS, GAO HONG, FARH KAI-HOW, SUNDARAM LAKSHMI
Format: Patent
Sprache:chi ; eng
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Beschreibung
Zusammenfassung:The disclosed technology relates to determining the feasibility of variant recognition of a sample of a target species using a reference genome of a non-target species. In particular, the disclosed technology involves mapping sequencing reads of a sample of target species to a reference genome of non-target species to detect a first set of variants in the sequencing reads of the sample of the target species; and mapping the sequenced reads of the sample of the target species to a reference genome of a pseudo target species to detect a second set of variants in the sequenced reads of the sample of the target species. 所公开的技术涉及确定使用非靶物种的参考基因组进行靶物种的样品的变体识别的可行性。具体地,所公开的技术涉及将靶物种的样品的测序读段映射到非靶物种的参考基因组以检测这些靶物种的该样品的这些测序读段中的第一变体集合;以及将这些靶物种的该样品的这些测序读段映射到伪靶物种的参考基因组以检测这些靶物种的该样品的这些测序读段中的第二变体集合。