AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics

AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics

Blog Article

Runs of Homozygosity (RoHs) are popular among geneticists as the footprint of demographic processes, evolutionary forces and inbreeding in shaping our genome, and are known to confer risk of Mendelian Taurine and complex diseases.Notwithstanding growing interest in their study, there is unmet need for reliable and rapid methods for genomic analyses in large data sets.AUDACITY is a tool integrating novel RoH detection algorithm and autozygosity prediction score for prioritization of mutation-surrounding regions.It processes data in VCF file format, and outperforms existing methods in identifying Belling Cookcentre110G 110cm 7 Burners A/A Gas Range Cooker Black 444444101 RoHs of any size.Simulations and analysis of real exomes/genomes show its potential to foster future RoH studies in medical and population genomics.