SYSTEMS AND METHODS FOR ANALYSIS AND INTERPRETATION OF NUCLEIC ACID SEQUENCE DATA

Systems and method for annotating variants within a genome can call variants from reads or receive called variants directly and associate the called variants with functional annotations and interpretive annotations. A summary report of the called variants, the associated functional annotations, and...

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Main Authors SIDDIQUI, ASIM, SHUKLA, AMITABH, KUHLMANN, KARL, AGATE, MRUNAL, DHAPULKAR, AMEET, ALTUN, GULSAH, LOU, YUANDAN, BREU, HEINZ, JANDHYALA, SRIKANTH, THOMAS, DARYL, KRISHNASWAMI, BRIJESH, HYLAND, FIONA
Format Patent
LanguageEnglish
French
Published 18.04.2013
Subjects
INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS
PHYSICS
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Summary:Systems and method for annotating variants within a genome can call variants from reads or receive called variants directly and associate the called variants with functional annotations and interpretive annotations. A summary report of the called variants, the associated functional annotations, and the associated interpretive annotations can be generated. La présente invention concerne des systèmes et un procédé pour annoter des variants au sein d'un génome, pouvant appeler des variants à partir de lectures ou recevoir directement des variants appelés et associer les variants appelés à des annotations fonctionnelles et des annotations interprétatives. Un rapport récapitulatif des variants appelés, des annotations fonctionnelles associées et des annotations interprétatives associées peut être généré.
Bibliography:Application Number: WO2012US59601