Movement Disorders, EarlyView.Abstract Background Friedreich ataxia (FRDA) is a rare neurodegenerative disorder with heterogenous clinical progression, complicating prognosis and trial design. Neuroimaging offers objective biomarkers of disease progression, yet variability in progression patterns remains poorly understood.
Susmita Saha +8 more
wiley +1 more source
Detectability of runs of homozygosity is influenced by analysis parameters and population-specific demographic history. [PDF]
PLoS Comput BiolSilva GAA +4 more
europepmc +1 more source
The Journal of Pathology, EarlyView.Abstract Propionic acidemia (PA) is a neurometabolic disorder caused by propionyl‐CoA carboxylase deficiency with frequent neurological involvement, yet cell‐type‐specific mechanisms remain poorly defined. We established human induced pluripotent stem cell (iPSC)‐derived astrocytes (iAs) from patients harboring PCCA or PCCB mutations and investigated ...
Irene González‐Garnacho +5 more
wiley +1 more source
Development of a High‐Throughput Microarray Platform for Rapid, Low‐Cost Expanded Carrier Screening
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To develop a customized expanded carrier screening (ECS) solution for 8271 variants of 265 genes. Based on a microarray platform, this solution demonstrates comparable accuracy to next‐generation sequencing (NGS) platform; however, it has a lower cost, a faster speed, and a simplified data—analysis process.
Jiazhen Chang +11 more
wiley +1 more source
Discovery of runs-of-homozygosity diplotype clusters and their associations with diseases in UK Biobank. [PDF]
ElifeNaseri A, Zhi D, Zhang S.
europepmc +1 more source
Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice
Prenatal Diagnosis, EarlyView.ABSTRACT International guidelines recommend genetic testing when fetal growth restriction (FGR) accompanies structural anomalies, but recommendations for apparently isolated FGR remain variable, particularly regarding gestational age thresholds and the role of exome sequencing (ES). Interpretation is difficult because studies define FGR inconsistently,
Eran Ashwal, David Chitayat
wiley +1 more source
Analyzing Runs of Homozygosity Reveals Patterns of Selection in German Brown Cattle. [PDF]
Genes (Basel)Wirth A +5 more
europepmc +1 more source
From wild to tamed: Reimagining novel crops through omics and local plant diversity
PLANTS, PEOPLE, PLANET, EarlyView.The global food system faces growing pressure from climate change, biodiversity loss, and rising nutritional demands. Agriculture has increased yields but reduced crop diversity, flavor, and nutritional quality, leaving societies vulnerable and dependent on a narrow set of staple species.
Alexandra Sanfeliu Meliá +1 more
wiley +1 more source
Single nucleotide polymorphism-based analysis of linkage disequilibrium and runs of homozygosity patterns of indigenous sheep in the southern Taklamakan desert. [PDF]
BMC GenomicsHan ZP +6 more
europepmc +1 more source
The Genetic Legacy of Cretan Landrace Grapevines and Their Relationship to the Southern Levant
PLANTS, PEOPLE, PLANET, EarlyView.Grapes are more than an agricultural crop; they are a vital part of human history, economy, and culture. Yet the origins of many traditional varieties remain unclear. By studying the genetics of Cretan grapes, we discovered that they are a “genetic mosaic”—combining local lineages with those from the Southern Levant and Eastern Europe.
Meirav Meiri +5 more
wiley +1 more source