A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

(2020) Holger Hengel et al.   Nature Communications

A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia

(2020) Kheloud M. Alhamoudi et al.   Frontiers in Pediatrics

Chromosome-level assembly of the water buffalo genome surpasses human and goat genomes in sequence contiguity

(2019) Wai Yee Low et al.   Nature Communications

Genomic Medicine–Progress, Pitfalls, and Promise

(2019) Jay Shendure et al.   CELL

Mocha tyrosinase variant: a new flavour of cat coat coloration

(2019) Y. Yu et al.   ANIMAL GENETICS

Kidney and cystic volume imaging for disease presentation and progression in the cat autosomal dominant polycystic kidney disease large animal model

(2019) Yoshihiko Yu et al.   BMC Nephrology

Multi-platform discovery of haplotype-resolved structural variation in human genomes

(2019) Mark J. P. Chaisson et al.   Nature Communications

A TAC3 Missense Variant in a Domestic Shorthair Cat with Testicular Hypoplasia and Persistent Primary Dentition

(2019) Petra Hug et al.   Genes

Contrasting Patterns of Genomic Diversity Reveal Accelerated Genetic Drift but Reduced Directional Selection on X-Chromosome in Wild and Domestic Sheep Species

(2018) Ze-Hui Chen et al.   Genome Biology and Evolution

Predicting the clinical impact of human mutation with deep neural networks

(2018) Laksshman Sundaram et al.   NATURE GENETICS

Applications and efficiencies of the first cat 63K DNA array

(2018) Barbara Gandolfi et al.   Scientific Reports

A frameshift variant in the COL5A1 gene in a cat with Ehlers-Danlos syndrome

(2018) M. Spycher et al.   ANIMAL GENETICS

Identification and quantification of domestic feline cytochrome P450 transcriptome across multiple tissues

(2018) Marike Visser et al.   JOURNAL OF VETERINARY PHARMACOLOGY AND THERAPEUTICS

FBXW7: a critical tumor suppressor of human cancers

(2018) Chien-Hung Yeh et al.   Molecular Cancer

Comprehensive characterization of horse genome variation by whole-genome sequencing of 88 horses

(2018) V. Jagannathan et al.   ANIMAL GENETICS

First genome-wide CNV mapping in FELIS CATUS using next generation sequencing data

(2018) F. Genova et al.   BMC GENOMICS

A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease)

(2018) Ping Wang et al.   BMC Veterinary Research

Whole genome sequencing predicts novel human disease models in rhesus macaques

(2017) Benjamin N. Bimber et al.   GENOMICS

Precision Medicine in Cats: Novel Niemann-Pick Type C1 Diagnosed by Whole-Genome Sequencing

(2017) D.A. Mauler et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

Population Genomics Reveals Speciation and Introgression between Brown Norway Rats and Their Sibling Species

(2017) Huajing Teng et al.   MOLECULAR BIOLOGY AND EVOLUTION

Single-molecule sequencing and chromatin conformation capture enable de novo reference assembly of the domestic goat genome

(2017) Derek M Bickhart et al.   NATURE GENETICS

Ensembl 2018

(2017) Daniel R Zerbino et al.   NUCLEIC ACIDS RESEARCH

Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes)

(2017) Annie Oh et al.   Scientific Reports

The palaeogenetics of cat dispersal in the ancient world

(2017) Claudio Ottoni et al.   Nature Ecology & Evolution

Minimap and miniasm: fast mapping and de novo assembly for noisy long sequences

(2016) Heng Li   BIOINFORMATICS

The population genomics of rhesus macaques ( Macaca mulatta ) based on whole-genome sequences

(2016) Cheng Xue et al.   GENOME RESEARCH

A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats

(2016) Danielle Aberdein et al.   MAMMALIAN GENOME

Whole-Genome Sequencing of Native Sheep Provides Insights into Rapid Adaptations to Extreme Environments

(2016) Ji Yang et al.   MOLECULAR BIOLOGY AND EVOLUTION

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

(2016) Monkol Lek et al.   NATURE

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

(2016) Frederick E. Dewey et al.   SCIENCE

Long-read sequence assembly of the gorilla genome

(2016) D. Gordon et al.   SCIENCE

A High-Resolution SNP Array-Based Linkage Map Anchors a New Domestic Cat Draft Genome Assembly and Provides Detailed Patterns of Recombination

(2016) Gang Li et al.   G3-Genes Genomes Genetics

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

(2015) Xiaoyu Chen et al.   BIOINFORMATICS

Genomic landscape of rat strain and substrain variation

(2015) Roel Hermsen et al.   BMC GENOMICS

Whole-genome resequencing analyses of five pig breeds, including Korean wild and native, and three European origin breeds

(2015) Jung-Woo Choi et al.   DNA RESEARCH

DNA mutations of the cat

(2015) Leslie A Lyons   JOURNAL OF FELINE MEDICINE AND SURGERY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Large-scale whole-genome sequencing of the Icelandic population

(2015) Daniel F Gudbjartsson et al.   NATURE GENETICS

SpeedSeq: ultra-fast personal genome analysis and interpretation

(2015) Colby Chiang et al.   NATURE METHODS

Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors

(2015) Gaia Roversi et al.   Scientific Reports

The genetic basis of hypertrophic cardiomyopathy in cats and humans

(2015) Mark D. Kittleson et al.   Journal of Veterinary Cardiology

Systematic discovery of novel ciliary genes through functional genomics in the zebrafish

(2014) S. P. Choksi et al.   DEVELOPMENT

More evidence for cat taming at the Predynastic elite cemetery of Hierakonpolis (Upper Egypt)

(2014) Wim Van Neer et al.   JOURNAL OF ARCHAEOLOGICAL SCIENCE

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

Pilon: An Integrated Tool for Comprehensive Microbial Variant Detection and Genome Assembly Improvement

(2014) Bruce J. Walker et al.   PLoS One

Comparative analysis of the domestic cat genome reveals genetic signatures underlying feline biology and domestication

(2014) Michael J. Montague et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

UDP-glucose dehydrogenase modulates proteoglycan synthesis in articular chondrocytes: its possible involvement and regulation in osteoarthritis

(2014) Yinxian Wen et al.   ARTHRITIS RESEARCH & THERAPY

LUMPY: a probabilistic framework for structural variant discovery

(2014) Ryan M Layer et al.   GENOME BIOLOGY

Genome Sequencing Reveals Loci under Artificial Selection that Underlie Disease Phenotypes in the Laboratory Rat

(2013) Santosh S. Atanur et al.   CELL

Feline mediastinal lymphoma: a retrospective study of signalment, retroviral status, response to chemotherapy and prognostic indicators

(2013) Francesca Fabrizio et al.   JOURNAL OF FELINE MEDICINE AND SURGERY

Variation of cats under domestication: genetic assignment of domestic cats to breeds and worldwide random-bred populations

(2012) J. D. Kurushima et al.   ANIMAL GENETICS

DELLY: structural variant discovery by integrated paired-end and split-read analysis

(2012) T. Rausch et al.   BIOINFORMATICS

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

(2012) Pablo Cingolani et al.   FLY

Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly

(2012) Ernest T Lam et al.   NATURE BIOTECHNOLOGY

cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate

(2012) Günter Klambauer et al.   NUCLEIC ACIDS RESEARCH

Allele-Specific Deletions in Mouse Tumors Identify Fbxw7 as Germline Modifier of Tumor Susceptibility

(2012) Jesus Perez-Losada et al.   PLoS One

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

(2011) A. Abyzov et al.   GENOME RESEARCH

Sixteen years and counting: The current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias

(2011) Silvie Foldynova-Trantirkova et al.   HUMAN MUTATION

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

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

(2011) Mark A DePristo et al.   NATURE GENETICS

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

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

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

(2010) A. McKenna et al.   GENOME RESEARCH

Regulation of UDP-glucose dehydrogenase is sufficient to modulate hyaluronan production and release, control sulfated GAG synthesis, and promote chondrogenesis

(2010) Claire E. Clarkin et al.   JOURNAL OF CELLULAR PHYSIOLOGY

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Inbred Strains Should Replace Outbred Stocks in Toxicology, Safety Testing, and Drug Development

(2010) Michael F. W. Festing   TOXICOLOGIC PATHOLOGY

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Human genetic variation and its contribution to complex traits

(2009) Kelly A. Frazer et al.   NATURE REVIEWS GENETICS

The ascent of cat breeds: Genetic evaluations of breeds and worldwide random-bred populations

(2007) Monika J. Lipinski et al.   GENOMICS