Data‐adaptive and pathway‐based tests for association studies between somatic mutations and germline variations in human cancers

The impact of rare germline variants on human somatic mutation processes

(2022) Mischan Vali-Pour et al.   Nature Communications

Association between germline variants and somatic mutations in colorectal cancer

(2022) Richard Barfield et al.   Scientific Reports

Pan-cancer analysis of whole genomes

(2020)   NATURE

Common germline-somatic variant interactions in advanced urothelial cancer

(2020) Aram Vosoughi et al.   Nature Communications

Integrating germline and somatic variation information using genomic data for the discovery of biomarkers in prostate cancer

(2019) Tarun Karthik Kumar Mamidi et al.   BMC CANCER

Germline Variants Impact Somatic Events during Tumorigenesis

(2019) Johnny R. Ramroop et al.   TRENDS IN GENETICS

FunSPU: A versatile and adaptive multiple functional annotation-based association test of whole-genome sequencing data

(2019) Yiding Ma et al.   PLoS Genetics

Identifying Putative Susceptibility Genes and Evaluating Their Associations with Somatic Mutations in Human Cancers

(2019) Zhishan Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case report

(2018) Ruen Yao et al.   BMC Medical Genomics

Inactivation of CDK12 Delineates a Distinct Immunogenic Class of Advanced Prostate Cancer

(2018) Yi-Mi Wu et al.   CELL

Oncogenic Signaling Pathways in The Cancer Genome Atlas

(2018) Francisco Sanchez-Vega et al.   CELL

Comprehensive analysis of CTNNB1 in adrenocortical carcinomas: Identification of novel mutations and correlation to survival

(2018) Rajani Maharjan et al.   Scientific Reports

A powerful and data-adaptive test for rare-variant-based gene-environment interaction analysis

(2018) Tianzhong Yang et al.   STATISTICS IN MEDICINE

A Powerful Framework for Integrating eQTL and GWAS Summary Data

(2017) Zhiyuan Xu et al.   GENETICS

Comprehensive pancancer genomic analysis reveals (RTK)-RAS-RAF-MEK as a key dysregulated pathway in cancer: Its clinical implications

(2017) Robin Imperial et al.   SEMINARS IN CANCER BIOLOGY

Interaction Landscape of Inherited Polymorphisms with Somatic Events in Cancer

(2017) Hannah Carter et al.   Cancer Discovery

Exon 3 mutations of CTNNB1 drive tumorigenesis: a review

(2017) Chao Gao et al.   Oncotarget

A Powerful Framework for Integrating eQTL and GWAS Summary Data

(2017) Zhiyuan Xu et al.   GENETICS

The effect of a germline mutation in the APC gene on β-catenin in human embryonic stem cells

(2016) Nofar Yedid et al.   BMC CANCER

Association of germline variants in the APOBEC3 region with cancer risk and enrichment with APOBEC-signature mutations in tumors

(2016) Candace D Middlebrooks et al.   NATURE GENETICS

Integrative approaches for large-scale transcriptome-wide association studies

(2016) Alexander Gusev et al.   NATURE GENETICS

On Robust Association Testing for Quantitative Traits and Rare Variants

(2016) Peng Wei et al.   G3-Genes Genomes Genetics

A Powerful Pathway-Based Adaptive Test for Genetic Association with Common or Rare Variants

(2015) Wei Pan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clusters of Multiple Mutations: Incidence and Molecular Mechanisms

(2015) Kin Chan et al.   Annual Review of Genetics

Oncotator: Cancer Variant Annotation Tool

(2015) Alex H. Ramos et al.   HUMAN MUTATION

MAGMA: Generalized Gene-Set Analysis of GWAS Data

(2015) Christiaan A. de Leeuw et al.   PLoS Computational Biology

Targeting RTK Signaling Pathways in Cancer

(2015) Tarik Regad   Cancers

A Powerful and Adaptive Association Test for Rare Variants

(2014) Wei Pan et al.   GENETICS

Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer

(2014) Serena Nik-Zainal et al.   NATURE GENETICS

HYST: A Hybrid Set-Based Test for Genome-wide Association Studies, with Application to Protein-Protein Interaction-Based Association Analysis

(2012) Miao-Xin Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Adaptive tests for association analysis of rare variants

(2011) Wei Pan et al.   GENETIC EPIDEMIOLOGY

TP53 Mutation Is Frequently Associated With CTNNB1 Mutation or MYCN Amplification and Is Compatible With Long-Term Survival in Medulloblastoma

(2010) Elke Pfaff et al.   JOURNAL OF CLINICAL ONCOLOGY

Germline Variation Controls the Architecture of Somatic Alterations in Tumors

(2010) Amy M. Dworkin et al.   PLoS Genetics

Allelic Selection of Amplicons in Glioblastoma Revealed by Combining Somatic and Germline Analysis

(2010) Thomas LaFramboise et al.   PLoS Genetics

Asymptotic tests of association with multiple SNPs in linkage disequilibrium

(2009) Wei Pan   GENETIC EPIDEMIOLOGY