Background: Deleterious genetic variation can increase in frequency as a result of mutations, genetic drift, and genetic hitchhiking. Although individual effects are often small, the cumulative effect of deleterious genetic variation can impact population fitness substantially. In this study, we examined the genome of commercial purebred chicken lines for deleterious and functional variations, combining genotype and whole‑genome sequence data. Results: We analysed over 22,000 animals that were genotyped on a 60 K SNP chip from four purebred lines (two white egg and two brown egg layer lines) and two crossbred lines. We identified 79 haplotypes that showed a significant deficit in homozygous carriers. This deficit was assumed to stem from haplotypes that potentially harbour lethal recessive variations. To identify potentially deleterious mutations, a catalogue of over 10 million variants was derived from 250 whole‑genome sequenced animals from three purebred white‑egg layer lines. Out of 4219 putative delete rious variants, 152 mutations were identified that likely induce embryonic lethality in the homozygous state. Inferred deleterious variation showed evidence of purifying selection and deleterious alleles were generally overrepresented in regions of low recombination. Finally, we found evidence that mutations, which were inferred to be evolutionally intolerant, likely have positive effects in commercial chicken populations. Conclusions: We present a comprehensive genomic perspective on deleterious and functional genetic variation in egg layer breeding lines, which are under intensive selection and characterized by a small effective population size. We show that deleterious variation is subject to purifying selection and that there is a positive relationship between recombination rate and purging efficiency. In addition, multiple putative functional coding variants were discovered in selective sweep regions, which are likely under positive selection. Together, this study provides a unique molecular perspective on functional and deleterious variation in commercial egg‑laying chickens, which can enhance current genomic breeding practices to lower the frequency of undesirable variants in the population. @en

PURPOSE: The purpose of this study was to quantify sentence-level articulatory kinematics in individuals treated for oral squamous cell carcinoma (ITOC) compared to control speakers while also assessing the effect of treatment site (jaw vs. tongue). Furthermore, this study aimed to assess the relation between articulatory-kinematic measures and self-reported speech problems. METHOD: Articulatory-kinematic data from the tongue tip, tongue back, and jaw were collected using electromagnetic articulography in nine Dutch ITOC and eight control speakers. To quantify articulatory kinematics, the two-dimensional articulatory working space (AWS; in mm2), one-dimensional anteroposterior range of motion (AP-ROM; in mm), and superior-inferior range of motion (SI-ROM in mm) were calculated and examined. Self-reported speech problems were assessed with the Speech Handicap Index (SHI). RESULTS: Compared to a sex-matched control group, ITOC showed significantly smaller AWS, AP-ROM, and SI-ROM for both the tongue tip and tongue back sensor, but no significant differences were observed for the jaw sensor. This pattern was found for both individuals treated for tongue and jaw tumors. Moderate nonsignificant correlations were found between the SHI and the AWS of the tongue back and jaw sensors. CONCLUSIONS: Despite large individual variation, ITOC showed reduced one- and two-dimensional tongue, but not jaw, movements compared to control speakers and treatment for tongue and jaw tumors resulted in smaller tongue movements. A larger sample size is needed to establish a more generalizable connection between the AWS and the SHI. Further research should explore how these kinematic changes in ITOC are related to acoustic and perceptual measures of speech.@en