Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations

Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients With Pancreatic Cancer

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Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer

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Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

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BRCA1, BRCA2, PALB2 and CDKN2A mutations in familial pancreatic cancer: a PACGENE study

(2014) David B. Zhen et al.   GENETICS IN MEDICINE

High risk of tobacco-related cancers inCDKN2Amutation-positive melanoma families

(2014) Hildur Helgadottir et al.   JOURNAL OF MEDICAL GENETICS

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

(2014) Jianxin Shi et al.   NATURE GENETICS

FFBSKAT: Fast Family-Based Sequence Kernel Association Test

(2014) Gulnara R. Svishcheva et al.   PLoS One

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Sequence Kernel Association Test for Quantitative Traits in Family Samples

(2012) Han Chen et al.   GENETIC EPIDEMIOLOGY

RobiNA: a user-friendly, integrated software solution for RNA-Seq-based transcriptomics

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Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy

(2011) P. Ghiorzo et al.   Familial Cancer

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Improved imputation of common and uncommon SNPs with a new reference set

(2011) Zhaoming Wang et al.   NATURE GENETICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Increased Risk of Cancer Other Than Melanoma in CDKN2A Founder Mutation (p16-Leiden)-Positive Melanoma Families

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