SNPnexus: a web server for functional annotation of human genome sequence variation (2020 update)

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants

(2019) Jana Marie Schwarz et al.   NUCLEIC ACIDS RESEARCH

ClinVar: improvements to accessing data

(2019) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

SNPnexus: assessing the functional relevance of genetic variation to facilitate the promise of precision medicine

(2018) Abu Z Dayem Ullah et al.   NUCLEIC ACIDS RESEARCH

Real-time genomic characterization of advanced pancreatic cancer to enable precision medicine

(2018) Andrew J Aguirre et al.   Cancer Discovery

Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations

(2018) David Tamborero et al.   Genome Medicine

VarSome: the human genomic variant search engine

(2018) Christos Kopanos et al.   BIOINFORMATICS

COSMIC: the Catalogue Of Somatic Mutations In Cancer

(2018) John G Tate et al.   NUCLEIC ACIDS RESEARCH

GEMINI: a computationally-efficient search engine for large gene expression datasets

(2016) Timothy DeFreitas et al.   BMC BIOINFORMATICS

Evaluation of relational and NoSQL database architectures to manage genomic annotations

(2016) Wade L. Schulz et al.   JOURNAL OF BIOMEDICAL INFORMATICS

Genomic analyses identify molecular subtypes of pancreatic cancer

(2016) Peter Bailey et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

ATR inhibitors as a synthetic lethal therapy for tumours deficient in ARID1A

(2016) Chris T. Williamson et al.   Nature Communications

Randomized, Double-Blind Phase II Trial With Prospective Classification by ATM Protein Level to Evaluate the Efficacy and Tolerability of Olaparib Plus Paclitaxel in Patients With Recurrent or Metastatic Gastric Cancer

(2015) Yung-Jue Bang et al.   JOURNAL OF CLINICAL ONCOLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Predicting effects of noncoding variants with deep learning–based sequence model

(2015) Jian Zhou et al.   NATURE METHODS

SIFT missense predictions for genomes

(2015) Robert Vaser et al.   Nature Protocols

TCGAbiolinks: an R/Bioconductor package for integrative analysis of TCGA data

(2015) Antonio Colaprico et al.   NUCLEIC ACIDS RESEARCH

ARID1A Deficiency Impairs the DNA Damage Checkpoint and Sensitizes Cells to PARP Inhibitors

(2015) J. Shen et al.   Cancer Discovery

Projecting Cancer Incidence and Deaths to 2030: The Unexpected Burden of Thyroid, Liver, and Pancreas Cancers in the United States

(2014) L. Rahib et al.   CANCER RESEARCH

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

The UCSC genome browser and associated tools

(2012) R. M. Kuhn et al.   BRIEFINGS IN BIOINFORMATICS

wANNOVAR: annotating genetic variants for personal genomes via the web

(2012) Xiao Chang et al.   JOURNAL OF MEDICAL GENETICS

SNPnexus: a web server for functional annotation of novel and publicly known genetic variants (2012 update)

(2012) A. Z. Dayem Ullah et al.   NUCLEIC ACIDS RESEARCH

Targeting ATR in vivo using the novel inhibitor VE-822 results in selective sensitization of pancreatic tumors to radiation

(2012) E Fokas et al.   Cell Death & Disease

Tabix: fast retrieval of sequence features from generic TAB-delimited files

(2011) H. Li   BIOINFORMATICS

PHAST and RPHAST: phylogenetic analysis with space/time models

(2010) M. J. Hubisz et al.   BRIEFINGS IN BIOINFORMATICS

Personalizing Cancer Treatment in the Age of Global Genomic Analyses: PALB2 Gene Mutations and the Response to DNA Damaging Agents in Pancreatic Cancer

(2010) M. C. Villarroel et al.   MOLECULAR CANCER THERAPEUTICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms

(2008) C. Chelala et al.   BIOINFORMATICS