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Single-nucleotide variants on IGH

FM Francesco Maura
AD Andrea Degasperi
FN Ferran Nadeu
DL Daniel Leongamornlert
HD Helen Davies
LM Luiza Moore
RR Romina Royo
BZ Bachisio Ziccheddu
XP Xose S. Puente
HA Herve Avet-Loiseau
PC Peter J. Campbell
SN Serena Nik-Zainal
EC Elias Campo
NM Nikhil Munshi
NB Niccolò Bolli
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The mutation cancer cell fraction for c-AID SNVs was estimated using the Dirichlet process for both CLLs and MMs4,9. Considering the well-known complexity and low-quality mappping of IGH region, we ran three additional SNV callers (mutect269, caveman66, and muse70) to reduce the rate of false positives and we combined the results with the published catalog of SNVs generated with Sidron52. Seventy-nine percent of the previously published mutations on IGH was confirmed by at least one additional caller (Supplementary Fig. 12). Furthermore 512 additional SNVs were called by at least two out of the three new callers. Only mutations called by at least 2 out of 4 callers were included in the final analysis.

Copyright and License information: The Author(s) ©2019
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