The recently developed probabilistic genotyping software package MaSTR™ (SoftGenetics LLC) was used to develop statistical weight estimates for a variety of two-person STR mixture profiles with differentially degraded sources of DNA. A total of 864 analyses, on 144 two-person profiles, were performed. Mixture ratios ranged from 1:1 to 1:10, including pristine sources of DNA and various combinations of artificially degraded DNA (average size fragments of 150 or 250 bps). Quantities of DNA template were varied (0.1 to 0.5 ngs of total input) and MaSTR™ analysis was performed with eight chains of 10,000 or 40,000 iterations, with or without a conditioning profile to generate likelihood ratio (LR) values. Overall, the software performed as expected. The resulting log(LR) values for pristine mixture profiles were typically greater than 10. Lower-quality mixture data associated with sources of DNA at ~ 0.05 ngs for each contributor resulted in peak imbalance and allelic dropout which reduced the weight in support of a contributor. This was exacerbated by higher levels of degradation, with some instances resulting in log(LR) values in support of an exclusion. These studies provide additional support for the use of probabilistic genotyping software solutions in forensic investigations, addressing concerns raised by the President's Council of Advisors on Science and Technology (PCAST).
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http://dx.doi.org/10.1007/s00414-021-02771-0 | DOI Listing |
Turk J Gastroenterol
December 2024
Department of Emergency Medicine, Shandong University, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Qingdao, China.
Metabolic dysfunction-associated steatotic liver disease (MASLD) is considered the most widespread chronic liver condition globally. Genome-wide association studies (GWAS) have pinpointed several genetic loci correlated to MASLD, yet the biological significance of these loci remains poorly understood. Initially, we applied Functional Mapping and Annotation (FUMA) to conduct a functional annotation of the MASLD GWAS summary statistics, which included data from 3242 cases and 707 631 controls.
View Article and Find Full Text PDFGenet Sel Evol
December 2024
Natural Resources Institute Finland, 31600, Jokioinen, Finland.
Sex identification in farmed fish is important for the management of fish stocks and breeding programs, but identification based on visual characteristics is typically difficult or impossible in juvenile or premature fish. The amount of genomic data obtained from farmed fish is rapidly growing with the implementation of genomic selection in aquaculture. In comparison to mammals and birds, ray-finned fishes exhibit a greater diversity of sex determination systems, with an absence of conserved genomic regions.
View Article and Find Full Text PDFmedRxiv
December 2024
Computer Science, Columbia University, New York, NY, USA.
The increasing availability of whole-genome sequencing (WGS) has begun to elucidate the contribution of rare variants (RVs), both coding and non-coding, to complex disease. Multiple RV association tests are available to study the relationship between genotype and phenotype, but most are restricted to per-gene models and do not fully leverage the availability of variant-level functional annotations. We propose Genome-wide Rare Variant EnRichment Evaluation (gruyere), a Bayesian probabilistic model that complements existing methods by learning global, trait-specific weights for functional annotations to improve variant prioritization.
View Article and Find Full Text PDFForensic Sci Int Genet
December 2024
Unit of Forensic Genetics, University Center of Legal Medicine, Lausanne - Geneva, Lausanne University Hospital and University of Lausanne, Chemin de la Vulliette 4, Lausanne CH - 1000, Switzerland.
In most National DNA databases (NDNADB), only single source DNA profiles, and sometimes two-person DNA mixtures, can be searched provided a minimum number of loci (or alleles) is available. DNA profiles that do not meet these criteria (about 14 % of the traces analyzed in Western Switzerland) can be compared locally with candidates upon request from police services, used for one-off search, or remain unused. With the advent of probabilistic genotyping (PG), such complex DNA profiles can be compared to those stored in NDNADB based on likelihood ratios (LRs).
View Article and Find Full Text PDFPlant Phenomics
December 2024
Department of General and Organic Viticulture, Hochschule Geisenheim University, Geisenheim, Germany.
Understanding root system architecture (RSA) is essential for improving crop resilience to climate change, yet assessing root systems of woody perennials under field conditions remains a challenge. This study introduces a pipeline that combines field excavation, in situ 3-dimensional digitization, and transformation of RSA data into an interoperable format to analyze and model the growth and water uptake of grapevine rootstock genotypes. Eight root systems of each of 3 grapevine rootstock genotypes ("101-14", "SO4", and "Richter 110") were excavated and digitized 3 and 6 months after planting.
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