Abstract #277

# 277
Big data genomic investigation of dairy fertility and related traits with imputed sequences of 27K Holstein bulls.
Jicai Jiang1, Paul VanRaden2, John Cole2, Yang Da3, Li Ma*1, 1University of Maryland, College Park, MD, 2Animal Genomics and Improvement Laboratory, Beltsville, MD, 3University of Minnesota, St Paul, MN.

Imputation has been routinely applied to ascertain sequence variants in large genotyped populations based on reference populations of sequenced animals. With the implementation of the 1000 Bull Genomes Project and increasing numbers of animals sequenced, fine-mapping of causal variants is becoming feasible for complex traits in cattle. Using the 1000 Bull Genomes data, we imputed 3 million selected sequence variants to 27,000 Holstein bulls after quality control edits and LD pruning. These bulls were selected to have highly reliable breeding values (PTAs) for 35 production, reproduction, and body conformation traits. We first performed whole-genome single-marker scan for the 35 traits using the mixed-model based association test in MMAP (https://mmap.github.io). The single-trait association statistics were then merged in multi-trait analyses of 3 groups of traits, production, reproduction, and body conformation, respectively. Candidate genomic regions 2 Mb long, were selected based on the multi-trait analyses and used in fine-mapping studies. We implemented a state-of-art fine-mapping procedure with a Bayesian method that can assign a posterior probability of causality to each variant and for each independent association signal generate a minimum set of associated variants whose total posterior probability of causality exceeds a threshold (e.g., 95%). Our fine-mapping identified 36 candidate genes for production traits, 48 for reproduction traits, and 29 for body conformation traits, respectively, including some previously reported causal variants, e.g., Chr6:38027010 in ABCG2 for production traits and Chr7:93244933 in ARRDC3 for reproduction and body conformation traits. The candidate variant list may facilitate follow-up functional validation and expand our understanding of complex traits in dairy cattle. Additionally, our method can be readily applied to other species where large-scale sequence genotypes are available.

Key Words: genomics, reproduction, dairy

Speaker Bio
Li Ma is assistant professor of Department of Animal and Avian Sciences at University of Maryland, College Park. He received a BS degree in mathematics from Fudan University and PhD in quantitative genetics from the University of Minnesota. He has been active in the area of statistical genetics, population genetics, and dairy genetics for over 12 years. His research has been centered on elucidating the genetic basis and mechanism of complex diseases and traits of animals and humans, which can potentially leads to higher production of economically important traits for livestock animals and to better prediction and cure of animal and human diseases. His current research involves study of the genetic basis of dairy production, reproduction, and body conformation traits, characterization of recombination patterns and the genetic control in cattle, and development of improved GWAS and genomic selection methods and efficient computer tools.