Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

A Combined Functional Annotation Score for Non-Synonymous Variants

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

VAR-MD: A tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance

(2012) Murat Sincan et al.   HUMAN MUTATION

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

(2012) Gijs W E Santen et al.   NATURE GENETICS

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

(2012) Jeroen K J Van Houdt et al.   NATURE GENETICS

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

Computational tools for prioritizing candidate genes: boosting disease gene discovery

(2012) Yves Moreau et al.   NATURE REVIEWS GENETICS

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

(2012) Miao-Xin Li et al.   NUCLEIC ACIDS RESEARCH

Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress

(2012) Gholson J Lyon et al.   Genome Medicine

Finding Disease Variants in Mendelian Disorders By Using Sequence Data: Methods and Applications

(2011) Iuliana Ionita-Laza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A probabilistic disease-gene finder for personal genomes

(2011) M. Yandell et al.   GENOME RESEARCH

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

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

(2010) Christian Gilissen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

BioRuby: bioinformatics software for the Ruby programming language

(2010) N. Goto et al.   BIOINFORMATICS

SeqAnt: A web service to rapidly identify and annotate DNA sequence variations

(2010) Amol Shetty et al.   BMC BIOINFORMATICS

Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly

(2010) Alex V. Postma et al.   Circulation-Cardiovascular Genetics

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

(2010) A. McKenna et al.   GENOME RESEARCH

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

(2010) Yingrui Li et al.   NATURE GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

Nicolaides-Baraitser syndrome: Delineation of the phenotype

(2009) Sérgio B. Sousa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A SNP discovery method to assess variant allele probability from next-generation resequencing data

(2009) Y. Shen et al.   GENOME RESEARCH

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Sense from sequence reads: methods for alignment and assembly

(2009) Paul Flicek et al.   NATURE METHODS

Ensembl Genomes: Extending Ensembl across the taxonomic space

(2009) P. J. Kersey et al.   NUCLEIC ACIDS RESEARCH

CORUM: the comprehensive resource of mammalian protein complexes—2009

(2009) Andreas Ruepp et al.   NUCLEIC ACIDS RESEARCH

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

(2008) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS