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In Genome research ; h5-index 99.0

Crohn's disease (CD) is a chronic relapsing-remitting inflammatory disorder of the gastrointestinal tract that is characterized by altered innate and adaptive immune function. While massively parallel sequencing studies of the T cell receptor repertoire identified oligoclonal expansion of unique clones, much less is known about the B cell receptor (BCR) repertoire in CD. Here, we present a novel BCR repertoire sequencing dataset from ileal biopsies from pediatric patients with CD and controls, and identify CD-specific somatic hypermutation (SHM) patterns, revealed by a machine learning (ML) algorithm trained on BCR repertoire sequences. Moreover, ML classification of a different dataset from blood samples of adults with CD vs. controls identified that V gene usage, clusters, or mutation frequencies yielded excellent results in classifying the disease (F1>90%). In summary, we show that an ML algorithm enables the classification of CD based on unique BCR repertoire features with high accuracy.

Safra Modi, Werner Lael, Polak Pazit, Peres Ayelet, Salamon Naomi, Schvimer Michael, Weiss Batia, Barshack Iris, Shouval Dror S, Yaari Gur

2022-Dec-16