POT1 loss-of-function variants predispose to familial melanoma

A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia

(2013) Helen E Speedy et al.   NATURE GENETICS

POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia

(2013) Andrew J Ramsay et al.   NATURE GENETICS

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

(2013) Stig E Bojesen et al.   NATURE GENETICS

IntOGen-mutations identifies cancer drivers across tumor types

(2013) Abel Gonzalez-Perez et al.   NATURE METHODS

Telomere Length and the Risk of Cutaneous Malignant Melanoma in Melanoma-Prone Families with and without CDKN2A Mutations

(2013) Laura S. Burke et al.   PLoS One

TERT Promoter Mutations in Familial and Sporadic Melanoma

(2013) S. Horn et al.   SCIENCE

Loss of Telomere Protection: Consequences and Opportunities

(2013) Jacqueline J. L. Jacobs   Frontiers in Oncology

A Combined Functional Annotation Score for Non-Synonymous Variants

(2012) Margarida C. Lopes et al.   HUMAN HEREDITY

Melanoma Genetics: Recent Findings Take Us Beyond Well-Traveled Pathways

(2012) Matthew H. Law et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Functional impact bias reveals cancer drivers

(2012) Abel Gonzalez-Perez et al.   NUCLEIC ACIDS RESEARCH

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

(2011) F. Sievers et al.   Molecular Systems Biology

Germline mutations in BAP1 predispose to melanocytic tumors

(2011) Thomas Wiesner et al.   NATURE GENETICS

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Telomere Length in Prospective and Retrospective Cancer Case-Control Studies

(2010) K. A. Pooley et al.   CANCER RESEARCH

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

(2010) S. A. Forbes et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

(2009) A. M. Waterhouse et al.   BIOINFORMATICS

POT1 Association with TRF2 Regulates Telomere Length

(2009) M. F. Kendellen et al.   MOLECULAR AND CELLULAR BIOLOGY

How telomeric protein POT1 avoids RNA to achieve specificity for single-stranded DNA

(2009) J. Nandakumar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA