Whole-genome sequencing reveals a potential causal mutation for dwarfism in the Miniature Shetland pony

Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses

(2015) Julia Metzger et al.   BMC GENOMICS

NovelPOC1Amutation in primordial dwarfism reveals new insights for centriole biogenesis

(2015) Asuman Koparir et al.   HUMAN MOLECULAR GENETICS

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

(2012) Pablo Cingolani et al.   FLY

A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans

(2010) Eva-Lena Stattin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide SNP association-based localization of a dwarfism gene in Friesian dwarf horses

(2010) N. Orr et al.   ANIMAL GENETICS

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

(2010) William McLaren et al.   BIOINFORMATICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Investigation of Dwarfism Among Miniature Horses using the Illumina Horse SNP50 Bead Chip

(2009) J. Eberth∗ et al.   JOURNAL OF EQUINE VETERINARY SCIENCE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan

(2008) Stuart W. Tompson et al.   AMERICAN JOURNAL OF HUMAN GENETICS