Unlocking the Bottleneck in Forward Genetics Using Whole-Genome Sequencing and Identity by Descent to Isolate Causative Mutations

Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1

(2012) Velina Guergueltcheva et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Imputation of Single-Nucleotide Polymorphisms in Inbred Mice Using Local Phylogeny

(2012) Jeremy R. Wang et al.   GENETICS

Fine-Scale Maps of Recombination Rates and Hotspots in the Mouse Genome

(2012) Hadassa Brunschwig et al.   GENETICS

Multiplex Chromosomal Exome Sequencing Accelerates Identification of ENU-Induced Mutations in the Mouse

(2012) Miao Sun et al.   G3-Genes Genomes Genetics

Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models

(2012) T. D. Andrews et al.   Open Biology

Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism

(2012) Maria H. Chahrour et al.   PLoS Genetics

Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders

(2011) C. Rodelsperger et al.   BIOINFORMATICS

Integration of SNP genotyping confidence scores in IBD inference

(2011) Barak Markus et al.   BIOINFORMATICS

Rapid Identification of a Disease Allele in Mouse Through Whole Genome Sequencing and Bulk Segregation Analysis

(2011) C. N. Arnold et al.   GENETICS

An ENU-Mutagenesis Screen in the Mouse: Identification of Novel Developmental Gene Functions

(2011) Carolien Wansleeben et al.   PLoS One

Mutation discovery in mice by whole exome sequencing

(2011) Heather Fairfield et al.   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

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Stampy: A statistical algorithm for sensitive and fast mapping of Illumina sequence reads

(2010) G. Lunter et al.   GENOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

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

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

A New Standard Genetic Map for the Laboratory Mouse

(2009) Allison Cox et al.   GENETICS

A Kinase-Dead Allele of Lyn Attenuates Autoimmune Disease Normally Associated with Lyn Deficiency

(2009) A. M. Verhagen et al.   JOURNAL OF IMMUNOLOGY

ENU Mutagenesis, a Way Forward to Understand Gene Function

(2008) Abraham Acevedo-Arozena et al.   Annual Review of Genomics and Human Genetics