A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves

Two novel genomic regions associated with fearfulness in dogs overlap human neuropsychiatric loci

(2019) R. Sarviaho et al.   Translational Psychiatry

Loss of function mutations in essential genes cause embryonic lethality in pigs

(2019) Martijn F. L. Derks et al.   PLoS Genetics

A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia

(2019) Kaisa Kyöstilä et al.   Scientific Reports

ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis

(2019) Isabelle Schmutz et al.   MOLECULAR GENETICS AND METABOLISM

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

(2019) Jenny Lord et al.   LANCET

A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions

(2019) Marjo K. Hytönen et al.   HUMAN GENETICS

Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants

(2019) Marjo K. Hytönen et al.   HUMAN GENETICS

The R9H phospholamban mutation is associated with highly penetrant dilated cardiomyopathy and sudden death in a spontaneous canine model

(2019) Oriana Yost et al.   GENE

An ADAMTS3 missense variant is associated with Norwich Terrier upper airway syndrome

(2019) Thomas W. Marchant et al.   PLoS Genetics

A Missense Variant in SCN8A in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia

(2019) Letko et al.   Genes

Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration

(2019) Rebekkah J. Hitti et al.   Genes

Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White or Cream Coat Color in Dogs

(2019) Benoit Hédan et al.   Genes

Whole genome sequencing of canids reveals genomic regions under selection and variants influencing morphology

(2019) Jocelyn Plassais et al.   Nature Communications

A SIX6 Nonsense Variant in Golden Retrievers with Congenital Eye Malformations

(2019) Petra Hug et al.   Genes

A de novo in‐frame duplication in the COL 1A2 gene in a Lagotto Romagnolo dog with osteogenesis imperfecta

(2019) Anna Letko et al.   ANIMAL GENETICS

NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia

(2019) Linda Anderegg et al.   PLoS Genetics

A splice site variant in the SUV39H2 gene in Greyhounds with nasal parakeratosis

(2018) A. Bauer et al.   ANIMAL GENETICS

A novel MLPH variant in dogs with coat colour dilution

(2018) A. Bauer et al.   ANIMAL GENETICS

Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies

(2018) N. Dürig et al.   ANIMAL GENETICS

OUP accepted manuscript

(2018)   BIOINFORMATICS

An initiator codon mutation in SDE2 causes recessive embryonic lethality in Holstein cattle

(2018) Sébastien Fritz et al.   JOURNAL OF DAIRY SCIENCE

Deafness and vestibular dysfunction in a Doberman Pinscher puppy associated with a mutation in the PTPRQ gene

(2018) Julien Guevar et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

A de novo mutation in the EXT2 gene associated with osteochondromatosis in a litter of American Staffordshire Terriers

(2018) Steven G. Friedenberg et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

Myotonia congenita in a Labrador Retriever with truncated CLCN1

(2018) Pia R. Quitt et al.   NEUROMUSCULAR DISORDERS

Canine NAPEPLD-associated models of human myelin disorders

(2018) K. M. Minor et al.   Scientific Reports

Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease

(2018) Maria Kaukonen et al.   Cell Reports

A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy

(2018) Vincent Lepori et al.   G3-Genes Genomes Genetics

MKLN1 splicing defect in dogs with lethal acrodermatitis

(2018) Anina Bauer et al.   PLoS Genetics

NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease

(2018) Laura Barrientos et al.   ANIMAL GENETICS

A frameshift variant in the EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia

(2018) S. Hadji Rasouliha et al.   ANIMAL GENETICS

A novel KRT71 variant in curly-coated dogs

(2018) E. Salmela et al.   ANIMAL GENETICS

A second KRT 71 allele in curly coated dogs

(2018) A. Bauer et al.   ANIMAL GENETICS

iDog: an integrated resource for domestic dogs and wild canids

(2018) Bixia Tang et al.   NUCLEIC ACIDS RESEARCH

Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail dog breeds

(2018) Tamer A. Mansour et al.   PLoS Genetics

1000 Bull Genomes Project to Map Simple and Complex Genetic Traits in Cattle: Applications and Outcomes

(2018) Ben J. Hayes et al.   Annual Review of Animal Biosciences

A missense mutation in PFAS (phosphoribosylformylglycinamidine synthase) is likely causal for embryonic lethality associated with the MH1 haplotype in Montbéliarde dairy cattle

(2017) Pauline Michot et al.   JOURNAL OF DAIRY SCIENCE

Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog

(2017) M. Hirz et al.   MOLECULAR GENETICS AND METABOLISM

Demographic history, selection and functional diversity of the canine genome

(2017) Elaine A. Ostrander et al.   NATURE REVIEWS GENETICS

OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism

(2017) Madleina Caduff et al.   PLoS One

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

(2017) Franziska Wielaender et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

FGF4retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs

(2017) Emily A. Brown et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2)

(2017) Nico Mauri et al.   G3-Genes Genomes Genetics

A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder

(2017) Anina Bauer et al.   G3-Genes Genomes Genetics

ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs

(2017) Saila Holopainen et al.   PLoS Genetics

A de novo variant in the ASPRV1 gene in a dog with ichthyosis

(2017) Anina Bauer et al.   PLoS Genetics

Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs

(2017) Julia Niskanen et al.   PLoS One

Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species

(2017) E. Bourneuf et al.   Scientific Reports

MFSD8single-base pair deletion in a Chihuahua with neuronal ceroid lipofuscinosis

(2016) Philemon Karli et al.   ANIMAL GENETICS

Genetic mapping of canine fear and aggression

(2016) Isain Zapata et al.   BMC GENOMICS

A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle

(2016) Hermann Schwarzenbacher et al.   BMC GENOMICS

NGS-based reverse genetic screen for common embryonic lethal mutations compromising fertility in livestock

(2016) Carole Charlier et al.   GENOME RESEARCH

Identification of a nonsense mutation in APAF1 that is likely causal for a decrease in reproductive efficiency in Holstein dairy cattle

(2016) Heather A. Adams et al.   JOURNAL OF DAIRY SCIENCE

High-throughput discovery of novel developmental phenotypes

(2016) Mary E. Dickinson et al.   NATURE

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

(2016) Monkol Lek et al.   NATURE

Complex disease and phenotype mapping in the domestic dog

(2016) Jessica J. Hayward et al.   Nature Communications

A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1)

(2016) Nico Mauri et al.   G3-Genes Genomes Genetics

A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype

(2016) Dominik P. Waluk et al.   G3-Genes Genomes Genetics

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes

(2016) Marjo K. Hytönen et al.   PLoS Genetics

The Holstein Friesian Lethal Haplotype 5 (HH5) Results from a Complete Deletion of TBF1M and Cholesterol Deficiency (CDH) from an ERV-(LTR) Insertion into the Coding Region of APOB

(2016) Ekkehard Schütz et al.   PLoS One

Bottlenecks and selective sweeps during domestication have increased deleterious genetic variation in dogs

(2015) Clare D. Marsden et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1)

(2015) Michaela Wiedmer et al.   G3-Genes Genomes Genetics

A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy

(2015) Frank Steffen et al.   G3-Genes Genomes Genetics

A Missense Change in the ATG4D Gene Links Aberrant Autophagy to a Neurodegenerative Vacuolar Storage Disease

(2015) Kaisa Kyöstilä et al.   PLoS Genetics

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

(2015) Hanan E. Shamseldin et al.   GENOME BIOLOGY

A Deletion in the VLDLR Gene in Eurasier Dogs with Cerebellar Hypoplasia Resembling a Dandy-Walker-Like Malformation (DWLM)

(2015) Martina Gerber et al.   PLoS One

TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs

(2015) Kerstin Hahn et al.   PLoS One

In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle

(2014) Heli Venhoranta et al.   BMC GENOMICS

Genomic evaluation, breed identification, and discovery of a haplotype affecting fertility for Ayrshire dairy cattle

(2014) T.A. Cooper et al.   JOURNAL OF DAIRY SCIENCE

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle

(2014) Hans D Daetwyler et al.   NATURE GENETICS

DoGSD: the dog and wolf genome SNP database

(2014) Bing Bai et al.   NUCLEIC ACIDS RESEARCH

A Mutation in the FAM83G Gene in Dogs with Hereditary Footpad Hyperkeratosis (HFH)

(2014) Michaela Drögemüller et al.   PLoS Genetics

A frameshift mutation in the cubilin gene (CUBN) in Beagles with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption)

(2013) Michaela Drögemüller et al.   ANIMAL GENETICS

A COL11A2 Mutation in Labrador Retrievers with Mild Disproportionate Dwarfism

(2013) Mirjam Frischknecht et al.   PLoS One

Identification of a Nonsense Mutation in CWC15 Associated with Decreased Reproductive Efficiency in Jersey Cattle

(2013) Tad S. Sonstegard et al.   PLoS One

Detection of Haplotypes Associated with Prenatal Death in Dairy Cattle and Identification of Deleterious Mutations in GART, SHBG and SLC37A2

(2013) Sébastien Fritz et al.   PLoS One

A Frameshift Mutation in the Cubilin Gene (CUBN) in Border Collies with Imerslund-Gräsbeck Syndrome (Selective Cobalamin Malabsorption)

(2013) Marta Owczarek-Lipska et al.   PLoS One

A Mutation in the SUV39H2 Gene in Labrador Retrievers with Hereditary Nasal Parakeratosis (HNPK) Provides Insights into the Epigenetics of Keratinocyte Differentiation

(2013) Vidhya Jagannathan et al.   PLoS Genetics

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

(2012) Pablo Cingolani et al.   FLY

So many doggone traits: mapping genetics of multiple phenotypes in the domestic dog

(2012) M. Rimbault et al.   HUMAN MOLECULAR GENETICS

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

(2012) Anaïs Grall et al.   NATURE GENETICS

A Deletion in the Bovine FANCI Gene Compromises Fertility by Causing Fetal Death and Brachyspina

(2012) Carole Charlier et al.   PLoS One

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Variation of BMP3 Contributes to Dog Breed Skull Diversity

(2012) Jeffrey J. Schoenebeck et al.   PLoS Genetics

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

LGI2 Truncation Causes a Remitting Focal Epilepsy in Dogs

(2011) Eija H. Seppälä et al.   PLoS Genetics

Identification of Genomic Regions Associated with Phenotypic Variation between Dog Breeds using Selection Mapping

(2011) Amaury Vaysse et al.   PLoS Genetics

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

(2010) Heng Li et al.   BIOINFORMATICS

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

(2010) Anne-Christine Merveille et al.   NATURE GENETICS

A Simple Genetic Architecture Underlies Morphological Variation in Dogs

(2010) Adam R. Boyko et al.   PLOS BIOLOGY

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

An Expressed Fgf4 Retrogene Is Associated with Breed-Defining Chondrodysplasia in Domestic Dogs

(2009) H. G. Parker et al.   SCIENCE

Coat Variation in the Domestic Dog Is Governed by Variants in Three Genes

(2009) E. Cadieu et al.   SCIENCE

A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta

(2009) Cord Drögemüller et al.   PLoS Genetics

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

(2008) Da Wei Huang et al.   NUCLEIC ACIDS RESEARCH

A Mutation in Hairless Dogs Implicates FOXI3 in Ectodermal Development

(2008) Cord Drögemüller et al.   SCIENCE