The r computing and statistical language community has developed a myriad of resources for conducting population genetic analyses. However, resources for learning how to carry out population genetic analyses in r are scattered and often incomplete, which can make acquiring this skill unnecessarily difficult and time consuming. To address this gap, we developed an online community resource with guidance and working demonstrations for conducting population genetic analyses in r. The resource is freely available at http://popgen.nescent.org and includes material for both novices and advanced users of r for population genetics. To facilitate continued maintenance and growth of this resource, we developed a toolchain, process and conventions designed to (i) minimize financial and labour costs of upkeep; (ii) to provide a low barrier to contribution; and (iii) to ensure strong quality assurance. The toolchain includes automatic integration testing of every change and rebuilding of the website when new vignettes or edits are accepted. The process and conventions largely follow a common, distributed version control-based contribution workflow, which is used to provide and manage open peer review by designated website editors. The online resources include detailed documentation of this process, including video tutorials. We invite the community of population geneticists working in r to contribute to this resource, whether for a new use case of their own, or as one of the vignettes from the 'wish list' we maintain, or by improving existing vignettes.
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http://dx.doi.org/10.1111/1755-0998.12558 | DOI Listing |
Aust N Z J Obstet Gynaecol
January 2025
Reproductive Services Unit, The Royal Women's Hospital, Parkville, Australia.
Background: Modern assisted reproductive technology (ART), including pre-implantation genetic testing for aneuploidy (PGT-A), has opened new avenues in understanding early embryonic events and has simultaneously raised questions about the impact of ART itself on sex ratios.
Aims: The primary aim was to investigate whether patient demographic characteristics, ovarian stimulation protocols or laboratory characteristics in ART influence sex ratios. The secondary aim was to relate the blastocyst sex ratio (BSR) to the corresponding secondary sex ratio (SSR) in our patient cohort.
Genet Epidemiol
January 2025
Department of Population and Public Health Sciences, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.
Gene-environment interactions have been observed for childhood asthma, however few have been assessed in ethnically diverse populations. Thus, we examined how polygenic risk score (PRS) modifies the association between ambient air pollution exposure (nitrogen dioxide [NO], ozone, particulate matter < 2.5 and < 10 μm) and childhood asthma incidence in a diverse cohort.
View Article and Find Full Text PDFPrenat Diagn
January 2025
Key Laboratory of Reproductive Genetics (Ministry of Education) and Department of Reproductive Endocrinology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Prenatal cell-free DNA (cfDNA) screening has advanced significantly, extending beyond detecting aneuploidies to sub-chromosomal copy number variations. However, its application for screening dominant single-gene conditions, often caused by de novo variants, remains underutilized in the general obstetric population. This study reviews recent data and experience on prenatal cfDNA screening for dominant monogenic conditions using multiple-gene panels, highlighting its potential to enhance early detection and management of genetic disorders.
View Article and Find Full Text PDFClin Genet
January 2025
Department of Medical Genetics, Medical Faculty, Aksaray University, Aksaray, Turkiye.
Inherited retinal diseases (IRDs) constitute a heterogeneous group of clinically and genetically diverse conditions, standing as a primary cause of visual impairment among individuals aged 15-45, with an estimated incidence of 1:2000. Our study aimed to comprehensively evaluate the genetic variants underlying IRDs in the Turkish population. This study included 50 unrelated Turkish IRD patients and their families.
View Article and Find Full Text PDFJ Exp Clin Cancer Res
January 2025
Beijing Neurosurgical Institute, Capital Medical University, Beijing, 100070, China.
Background: Bone-invasive Pituitary Neuroendocrine Tumors (BI PitNETs) epitomize an aggressive subtype of pituitary tumors characterized by bone invasion, culminating in extensive skull base bone destruction and fragmentation. This infiltration poses a significant surgical risk due to potential damage to vital nerves and arteries. However, the mechanisms underlying bone invasion caused by PitNETs remain elusive, and effective interventions for PitNET-induced bone invasion are lacking in clinical practice.
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