Rapid resolution of variants of uncertain significance (VUS). A complementary role for zebrafish in the era of multi-million-dollar therapies [0.03%]
快速解决意义未明变异(VUS). 在数百万美元治疗的时代斑马鱼的补充作用
J Giacomotto
J Giacomotto
Genomic screening increasingly reveals variants of uncertain significance, forcing clinicians to make high-stakes decisions as million-dollar drug and gene-replacement therapies emerge. Rapid in vivo zebrafish assays can help to resolve var...
Mia J Gruzin,Leslie Burnett
Mia J Gruzin
Carrier screening aims to identify couples at risk of having children with serious genetic disorders. However, screening panels vary markedly in size, gene content and price, with little guidance to assess clinical utility or value. We anal...
Recall-by-genotype of neurodevelopmental disorder copy number variants in a multi-ancestry, healthcare-system biobank [0.03%]
多种族医疗体系生物银行中神经发育障碍拷贝数变异的基因分型召回率
Nina Zaks,Behrang Mahjani,Abraham Reichenberg et al.
Nina Zaks et al.
Clinical biobanks linking electronic health records (EHRs) with genotype data enable the study of genomic risk factors in real-world populations. However, recall-by-genotype (RbG) of psychiatric risk variants in diverse healthcare-system bi...
Evolutionary history of LRRK2 and PRKN in leprosy and Parkinson's disease [0.03%]
结核分枝杆菌LRRK2和PRKN基因的起源及与帕金森病的关系探究
Rachele Cagliani,Uberto Pozzoli,Diego Forni et al.
Rachele Cagliani et al.
LRRK2 (leucine-rich repeat kinase 2) and Parkin (PRKN) act in shared pathways and are implicated in Parkinson's disease (PD), leprosy, and other diseases. While leprosy likely imposed strong evolutionary pressure, PD's relatively late onset...
Specimen quality shapes the actionable genomic landscape in comprehensive cancer genomic profiling [0.03%]
样本质量影响全面癌症基因组分析的可操作性基因组图谱
Hikaru Nakahara,Hiroaki Niitsu,Masanori Motonaga et al.
Hikaru Nakahara et al.
Comprehensive genomic profiling (CGP) is widely used to identify actionable alterations and guide precision oncology, yet only a minority of tested patients receive genome-matched therapies, underscoring a gap between genomic findings and c...
Family experiences of receiving treatment recommendations in a precision medicine trial for poor-prognosis childhood cancer [0.03%]
精准医学试验中家庭对预后不良儿童癌症治疗建议的体验
Kate Hetherington,Jacqueline D Hunter,Mark W Donoghoe et al.
Kate Hetherington et al.
Precision medicine trials may generate new treatment options for children with poor-prognosis cancer. We examined families' experiences of receiving treatment recommendations in the Australian PRISM trial (Australian and New Zealand Clinica...
An EHR-based framework for modeling growth curves and constructing growth centile charts for genetic disorders [0.03%]
基于EHR的遗传疾病生长曲线建模及生长曲线图构建框架
Cathy Shyr,Rory J Tinker,Rebekah F Brown et al.
Cathy Shyr et al.
Growth modeling is central to human genetics, as deviations from typical growth can signal an underlying disorder. In this cohort study, we developed a generalizable framework for generating growth charts across genetic conditions using ele...
Itziar de Rojas,Pablo García-González,Clàudia Olivé et al.
Itziar de Rojas et al.
Recent studies suggest that copy number variants (CNVs) may contribute to the missing heritability of complex diseases such as Alzheimer's disease (AD) and related dementias (ADRD). We performed a CNV analysis using genotyping data (Axiom 8...
Systematic evaluation of long-read and short-read sequencing in neurological disorders diagnosis: a direct comparison study of 310 patients [0.03%]
神经疾病诊断中长读长和短读长测序的系统评估：310名患者的直接比较研究
Dream Lok Sze Chan,Helen Ying Fung Tam,Amy Hin Yan Tong et al.
Dream Lok Sze Chan et al.
Genetic neurological disorders are highly heterogeneous, and many are driven by complex variants that challenge short‑read genome sequencing (srGS). Long‑read genome sequencing (lrGS) has recently shown promise, but head‑to‑head evaluat...
GANomics: bridging legacy and modern transcriptomic platforms for clinical applications [0.03%]
基于GAN的平台在临床应用中连接传统和现代转录组学数据
Leihong Wu,Hadi Salman,Weida Tong
Leihong Wu
The evolution of transcriptomic technologies requires effective translation between legacy and modern platforms to fully leverage historical data. We present GANomics, a generative adversarial network (GAN) framework that enables bidirectio...