Combining mutation and recombination statistics to infer clonal families in antibody repertoires

Fuente: arXiv
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Main Authors: Spisak, Natanael, Athènes, Gabriel, Dupic, Thomas, Mora, Thierry, Walczak, Aleksandra M.
Format: Preprint
Published: 2022
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author Spisak, Natanael
Athènes, Gabriel
Dupic, Thomas
Mora, Thierry
Walczak, Aleksandra M.
author_facet Spisak, Natanael
Athènes, Gabriel
Dupic, Thomas
Mora, Thierry
Walczak, Aleksandra M.
contents B-cell repertoires are characterized by a diverse set of receptors of distinct specificities generated through two processes of somatic diversification: V(D)J recombination and somatic hypermutations. B cell clonal families stem from the same V(D)J recombination event, but differ in their hypermutations. Clonal families identification is key to understanding B-cell repertoire function, evolution and dynamics. We present HILARy (High-precision Inference of Lineages in Antibody Repertoires), an efficient, fast and precise method to identify clonal families from single- or paired-chain repertoire sequencing datasets. HILARy combines probabilistic models that capture the receptor generation and selection statistics with adapted clustering methods to achieve consistently high inference accuracy. It automatically leverages the phylogenetic signal of shared mutations in difficult repertoire subsets. Exploiting the high sensitivity of the method, we find the statistics of evolutionary properties such as the site frequency spectrum and dN/dS ratio do not depend on the junction length. We also identify a broad range of selection pressures spanning two orders of magnitude.
format Preprint
id arxiv_https___arxiv_org_abs_2212_11997
institution arXiv
publishDate 2022
record_format arxiv
spellingShingle Combining mutation and recombination statistics to infer clonal families in antibody repertoires
Spisak, Natanael
Athènes, Gabriel
Dupic, Thomas
Mora, Thierry
Walczak, Aleksandra M.
Populations and Evolution
Genomics
B-cell repertoires are characterized by a diverse set of receptors of distinct specificities generated through two processes of somatic diversification: V(D)J recombination and somatic hypermutations. B cell clonal families stem from the same V(D)J recombination event, but differ in their hypermutations. Clonal families identification is key to understanding B-cell repertoire function, evolution and dynamics. We present HILARy (High-precision Inference of Lineages in Antibody Repertoires), an efficient, fast and precise method to identify clonal families from single- or paired-chain repertoire sequencing datasets. HILARy combines probabilistic models that capture the receptor generation and selection statistics with adapted clustering methods to achieve consistently high inference accuracy. It automatically leverages the phylogenetic signal of shared mutations in difficult repertoire subsets. Exploiting the high sensitivity of the method, we find the statistics of evolutionary properties such as the site frequency spectrum and dN/dS ratio do not depend on the junction length. We also identify a broad range of selection pressures spanning two orders of magnitude.
title Combining mutation and recombination statistics to infer clonal families in antibody repertoires
topic Populations and Evolution
Genomics
url https://arxiv.org/abs/2212.11997