Detection of new drivers of frequent B-cell lymphoid neoplasms using an integrated analysis of whole genomes

A Mosquera Orgueira, R Ferreiro Ferro, JÁ Díaz Arias… - PloS one, 2021 - journals.plos.org
B-cell lymphoproliferative disorders exhibit a diverse spectrum of diagnostic entities with
heterogeneous behaviour. Multiple efforts have focused on the determination of the genomic …

SUITOR: selecting the number of mutational signatures through cross-validation

D Lee, D Wang, XR Yang, J Shi… - PLoS Computational …, 2022 - journals.plos.org
For de novo mutational signature analysis, the critical first step is to decide how many
signatures should be expected in a cancer genomics study. An incorrect number could …

Parental germline mosaicism in genome-wide phased de novo variants: recurrence risk assessment and implications for precision genetic counselling

F Lecoquierre, N Drouot, S Coutant, O Quenez… - 2024 - researchsquare.com
Background: De novo mutations (DNMs) significantly impact health, particularly through
developmental disorders. DNMs occur in both paternal and maternal germlines via diverse …

[图书][B] Integrating Multimodal Data for Personalized Models of Cancer

AL Cummings - 2022 - search.proquest.com
Advances in next-generation sequencing coupled with comparative analyses have had
tremendous implication for oncology. Differentially expressed genomic features have …