METHODS AND SYSTEMS FOR DETECTING ALTERNATIVE SPLICING IN SEQUENCING DATA

The disclosure provides methods and systems for detecting alternative splicing variants in a patient sample. The methods involve comparison of splice junction data from RNA sequencing with principal splicing isoforms and identifying those sequences, identifying those sequences that do not match the...

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Bibliographic Details
Main Authors LEIBOWITZ, Benjamin, BRESCHI, Alessandra, MICHUDA, Jackson, DREWS, Joshua, BELL, Joshua, Sk
Format Patent
LanguageEnglish
French
German
Published 21.08.2024
Subjects
INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS
PHYSICS
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Summary:The disclosure provides methods and systems for detecting alternative splicing variants in a patient sample. The methods involve comparison of splice junction data from RNA sequencing with principal splicing isoforms and identifying those sequences, identifying those sequences that do not match the principal splicing isoform. These sequences are categorized into alternative splicing events and documented. Optionally, previously identified target sequences can be utilized in the comparison where the method seeks sequences which do match. Other methods and systems of the present disclosure include those for building a splice profile of alternative splicing variants for a patient sample and those for developing a companion diagnostic test for a treatment method of a disease based on the presence or absence of alternative splicing variants in a patient sample.
Bibliography:Application Number: EP20220802341