Systems and methods for high-accuracy variant calling

Systems and methods for in silico prediction of HLA type of a patient are presented in which patient sequence reads and a reference sequence with known and distinct HLA alleles are used in a de Bruijn graph. A composite match score is then used to rank HLA alleles, thus providing a first HLA type. A...

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Hauptverfasser:	FESSENMAIER Martin, SANBORN John Zachary
Format:	Patent
Sprache:	eng ; heb
Schlagworte:	INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS PHYSICS
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creator	FESSENMAIER Martin SANBORN John Zachary
description	Systems and methods for in silico prediction of HLA type of a patient are presented in which patient sequence reads and a reference sequence with known and distinct HLA alleles are used in a de Bruijn graph. A composite match score is then used to rank HLA alleles, thus providing a first HLA type. A second HLA type is identified by re-ranking using an adjusted composite match score.
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subjects	INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS PHYSICS
title	Systems and methods for high-accuracy variant calling
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