Background: Species tree estimation is a basic step in many biological research projects, but is complicated by the fact that gene trees can differ from the species tree due to processes such as incomplete lineage sorting (ILS), gene duplication and loss (GDL), and horizontal gene transfer (HGT), which can cause different regions within the genome to have different evolutionary histories (i.e., "gene tree heterogeneity"). One approach to estimating species trees in the presence of gene tree heterogeneity resulting from ILS operates by computing trees on each genomic region (i.e., computing "gene trees") and then using these gene trees to define a matrix of average internode distances, where the internode distance in a tree T between two species x and y is the number of nodes in T between the leaves corresponding to x and y. Given such a matrix, a tree can then be computed using methods such as neighbor joining. Methods such as ASTRID and NJst (which use this basic approach) are provably statistically consistent, very fast (low degree polynomial time) and have had high accuracy under many conditions that makes them competitive with other popular species tree estimation methods. In this study, inspired by the very recent work of weighted ASTRAL, we present weighted ASTRID, a variant of ASTRID that takes the branch uncertainty on the gene trees into account in the internode distance.
Results: Our experimental study evaluating weighted ASTRID typically shows improvements in accuracy compared to the original (unweighted) ASTRID, and shows competitive accuracy against weighted ASTRAL, the state of the art. Our re-implementation of ASTRID also improves the runtime, with marked improvements on large datasets.
Conclusions: Weighted ASTRID is a new and very fast method for species tree estimation that typically improves upon ASTRID and has comparable accuracy to weighted ASTRAL, while remaining much faster. Weighted ASTRID is available at https://github.com/RuneBlaze/internode .
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http://dx.doi.org/10.1186/s13015-023-00230-6 | DOI Listing |
Clin Nutr
December 2024
Translational Research Center for Gastrointestinal Disorders (TARGID), KU Leuven, Leuven, Belgium; Leuven Intestinal Failure and Transplantation Center (LIFT), University Hospitals Leuven, Leuven, Belgium. Electronic address:
Acta Paediatr
September 2024
Division of Paediatrics, Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden.
Aim: We aimed to investigate plasma lamotrigine concentrations and clinical effects in infants exposed to lamotrigine through breastfeeding.
Methods: This was a retrospective study of mother-infant dyads in a clinical follow-up programme in Stockholm, Sweden. Data were collected from medical records.
Aims/hypothesis: Metabolic abnormalities such as central obesity, insulin resistance, dyslipidaemia and hypertension, often referred to as 'the metabolic syndrome' (or 'combined metabolic abnormalities'), are increasingly being identified in people living with type 1 diabetes, accelerating the risk for CVD. As a result, in recent years, treatment in people living with type 1 diabetes has shifted to improving overall metabolic health rather than glucose control alone. In Belgium, diabetes care for people living with type 1 diabetes is centrally organised.
View Article and Find Full Text PDFNeurogenetics
October 2024
Department of Neuroscience & Cell Biology, Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ, 08901, USA.
ATPase, class 1, type 8 A, member 2 (ATP8A2) is a P4-ATPase with a critical role in phospholipid translocation across the plasma membrane. Pathogenic variants in ATP8A2 are known to cause cerebellar ataxia, impaired intellectual development, and disequilibrium syndrome 4 (CAMRQ4) which is often associated with encephalopathy, global developmental delay, and severe motor deficits. Here, we present a family with two siblings born from a consanguineous, first-cousin union from Sudan presenting with global developmental delay, intellectual disability, spasticity, ataxia, nystagmus, and thin corpus callosum.
View Article and Find Full Text PDFBMC Musculoskelet Disord
July 2024
Department of Women's and Children's Health, Karolinska Institutet, Karolinska Vägen 37 A, QA 02:07, 171 76, Stockholm, Sweden.
Background: For children with Osteogenesis Imperfecta (OI), a rare genetic bone disease, walking can be difficult to carry out due to a combination of bone fragility and deformity, muscle weakness, joint hypermobility, and pain. Bisphosphonate treatment has facilitated more children being able to walk, but for many, foot and ankle hypermobility is a limiting factor. Current evidence on foot orthoses in children with OI is sparse.
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