Jannovar: A Java Library for Exome Annotation

Improved exome prioritization of disease genes through cross-species phenotype comparison

(2013) P. N. Robinson et al.   GENOME RESEARCH

The UCSC Genome Browser database: 2014 update

(2013) Donna Karolchik et al.   NUCLEIC ACIDS RESEARCH

Olorin: combining gene flow with exome sequencing in large family studies of complex disease

(2012) J. A. Morris et al.   BIOINFORMATICS

VAT: a computational framework to functionally annotate variants in personal genomes within a cloud-computing environment

(2012) Lukas Habegger et al.   BIOINFORMATICS

AnnTools: a comprehensive and versatile annotation toolkit for genomic variants

(2012) Vladimir Makarov et al.   BIOINFORMATICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease

(2012) Byung-Ok Choi et al.   HUMAN MUTATION

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

(2012) Bahareh Rabbani et al.   JOURNAL OF HUMAN GENETICS

The UCSC Genome Browser database: extensions and updates 2013

(2012) Laurence R. Meyer et al.   NUCLEIC ACIDS RESEARCH

Ensembl 2013

(2012) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Strategies for exome and genome sequence data analysis in disease-gene discovery projects

(2011) PN Robinson et al.   CLINICAL GENETICS

EX-HOM (EXome HOMozygosity): A Proof of Principle

(2011) Tommaso Pippucci et al.   HUMAN HEREDITY

Variation in genome-wide mutation rates within and between human families

(2011) Donald F Conrad et al.   NATURE GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy

(2011) K. D. Pruitt et al.   NUCLEIC ACIDS RESEARCH

Next-generation human genetics

(2011) Jay Shendure   GENOME BIOLOGY

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

(2011) Katherine R Smith et al.   GENOME BIOLOGY

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

(2010) William McLaren et al.   BIOINFORMATICS

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

(2010) K. Wang et al.   NUCLEIC ACIDS 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