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Genetic Diversity and Runs of Homozygosity (ROH): A Portrait of the Quantitative Academic Publication Dynamic and Scientific Metadata

Francisco de Assis Diniz Sobrinhoa1,2*, Ronaldo Cunha Coelho2, Jeane de Oliveira Mourab2, Miklos Maximiliano Baja3 , Leonardo Castelo Branco Carvalho4 , Fábio Barros Brittoa1 , José Lindenberg Rocha Sarmento1 , Salvatore Mastrangelo5, Adriana Mello de Araújo6

Autozygosity is the homozygous state of Identical-By-Descent (IBD) alleles, which can result from several phenomena. The increase in inbreeding leads to different negative effects such as a reduction in genetic variance, with a reduction in individual performance (inbreeding depression) and lower population viability. Nowadays, among several alternative methods to estimate inbreeding, F estimated from Run of Homozygosity (FROH) is considered the most powerful. This study aimed to provide a systematic review to comprehensive understanding of the structure and dynamics of genomic diversity and the impact of ROH studies over the last decade, highlighting directions and opportunities for future research. 406 publications were identified on WoS core collection and applied to bibliometric analysis available in the R environment. The analysis revealed an increased number of publications per year. China, Italy, and the United States are the countries that published the most on the topic, with the main contributions published in journals such as Animals and Frontiers in Genetics. This study highlights the growing interest in the functional analysis of ROHs driven by computational tools capable of characterizing these genomic regions. Noteworthy are the PLINK software and the detect RUNS package, utilizing a sliding window methodology for SNP analysis in the genome. Beyond a global crisis of genetic diversity loss, challenges encompass ecological issues, habitat fragmentation, and isolated populations, as well as the availability of genetic variation in species domesticated by humans, which forms the foundation of our food supply. A bibliometric analysis highlights the growing interest and progress of research in breeds of homozygosity and genetic diversity, driven by the advancement of genomic technology and international collaboration. Asia, America and Europe lead in knowledge production. Advances like PLINK and detect RUNS in R mean a quest for more accurate analysis. Emerging topics such as migration and correlation indicate an increasing focus on the impact of ROH standards. Challenges include refining analytical techniques and exploring regions of high heterozygosity, promising future research directions.