14 research outputs found
INTEGRATION OF NEW DATA TYPES WITH HISTORICAL ARCHIVES TO PROVIDE INSIGHT INTO COASTAL ECOSYSTEM CHA
Family First: Evidence of Consistency and Variation in the Value of Family Versus Personal Happiness Across 49 Different Cultures
People care about their own well-being and about the well-being of their families. It is currently, however, unknown how much people tend to value their own versus their family's well-being. A recent study documented that people value family happiness over personal happiness across four cultures. In this study, we sought to replicate this finding across a larger sample size (N = 12,819) and a greater number of countries (N = 49). We found that the strength of the idealization of family over personal happiness preference was small (average Cohen's ds = .20, range -.02 to.48), but present in 98% of the studied countries, with statistical significance in 73% to 75%, and variance across countries <2%. We also found that the size of this effect did vary somewhat across cultural contexts. In Latin American cultures highest on relational mobility, the idealization of family over personal happiness was very small (average Cohen's ds for Latin America = .15 and .18), while in Confucian Asia cultures lowest on relational mobility, this effect was closer to medium (ds > .40 and .30). Importantly, we did not find strong support for traditional theories in cross-cultural psychology that associate collectivism with greater prioritization of the family versus the individual; country-level individualism-collectivism was not associated with variation in the idealization of family versus individual happiness. Our findings indicate that no matter how much various populists abuse the argument of "protecting family life" to disrupt emancipation, family happiness seems to be a pan-culturally phenomenon. Family well-being is a key ingredient of social fabric across the world, and should be acknowledged by psychology and well-being researchers and by progressive movements too
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
\ua9 2024 The Author(s)Detection of structural variants (SVs) is currently biased toward those that alter copy number. The relative contribution of inversions toward genetic disease is unclear. In this study, we analyzed genome sequencing data for 33,924 families with rare disease from the 100,000 Genomes Project. From a database hosting >500 million SVs, we focused on 351 genes where haploinsufficiency is a confirmed disease mechanism and identified 47 ultra-rare rearrangements that included an inversion (24 bp to 36.4 Mb, 20/47 de novo). Validation utilized a number of orthogonal approaches, including retrospective exome analysis. RNA-seq data supported the respective diagnoses for six participants. Phenotypic blending was apparent in four probands. Diagnostic odysseys were a common theme (>50 years for one individual), and targeted analysis for the specific gene had already been performed for 30% of these individuals but with no findings. We provide formal confirmation of a European founder origin for an intragenic MSH2 inversion. For two individuals with complex SVs involving the MECP2 mutational hotspot, ambiguous SV structures were resolved using long-read sequencing, influencing clinical interpretation. A de novo inversion of HOXD11-13 was uncovered in a family with Kantaputra-type mesomelic dysplasia. Lastly, a complex translocation disrupting APC and involving nine rearranged segments confirmed a clinical diagnosis for three family members and resolved a conundrum for a sibling with a single polyp. Overall, inversions play a small but notable role in rare disease, likely explaining the etiology in around 1/750 families across heterogeneous clinical cohorts