Invited review: Bioinformatic methods to discover the likely causal variant of a new autosomal recessive genetic condition using genome-wide data

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

Not All SCID Pigs Are Created Equally: Two Independent Mutations in theArtemisGene Cause SCID in Pigs

(2015) Emily H. Waide et al.   JOURNAL OF IMMUNOLOGY

The assessment of inter-individual variation of whole-genome DNA sequence in 32 cows

(2015) Joanna Szyda et al.   MAMMALIAN GENOME

SERPINB11 Frameshift Variant Associated with Novel Hoof Specific Phenotype in Connemara Ponies

(2015) Carrie J. Finno et al.   PLoS Genetics

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

(2015) Kaisa Kyöstilä et al.   PLoS Genetics

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

Congenital Hepatic Fibrosis in the Franches-Montagnes Horse Is Associated with the Polycystic Kidney and Hepatic Disease 1 (PKHD1) Gene

(2014) Michaela Drögemüller et al.   PLoS One

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

(2012) Michael Krauthammer et al.   NATURE GENETICS

Harmful recessive effects on fertility detected by absence of homozygous haplotypes

(2011) P.M. VanRaden et al.   JOURNAL OF DAIRY SCIENCE

Variation in Human Recombination Rates and Its Genetic Determinants

(2011) Adi Fledel-Alon et al.   PLoS One

Whole-Genome SNP Association in the Horse: Identification of a Deletion in Myosin Va Responsible for Lavender Foal Syndrome

(2010) Samantha A. Brooks et al.   PLoS Genetics

Highly effective SNP-based association mapping and management of recessive defects in livestock

(2008) Carole Charlier et al.   NATURE GENETICS