Megan Ball,Naomi Baker,Sze Chern Lim et al.
Megan Ball et al.
Genomic sequencing has transformed the diagnostic approach for mitochondrial disease, yet integration into standard clinical practice is limited by access and funding. We conducted a post-implementation evaluation of genome sequencing (GS) ...
Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome [0.03%]
双胞胎Tatton-Brown-Rahman DNMT3A过度生长综合征的家族性气胸
Sarju G Mehta,Simon Holden,Judith Babar et al.
Sarju G Mehta et al.
Spontaneous pneumothorax is a common respiratory presentation that may signal underlying genetic disease. Familial pneumothorax occurs in ~10% of primary cases, yet 75% remain genetically unclassified. We report identical twin brothers pres...
Individuals' preferences for future biological sample and genomic data sharing in the Australian Reproductive Genetic Carrier Screening Project [0.03%]
澳大利亚生殖遗传携带者筛查项目中个体对未来生物样本和基因组数据共享的偏好
Matilda A Haas,Evanthia O Madelli,Martin B Delatycki et al.
Matilda A Haas et al.
Genomic information collected in research settings is a valuable resource that can be shared for future (secondary) research with the consent of the individual. Whether individuals participating in genomic research are comfortable with broa...
Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools [0.03%]
系统基准测试表明大型语言模型尚未达到传统罕见病决策支持工具的诊断准确性
Justin T Reese,Leonardo Chimirri,Yasemin Bridges et al.
Justin T Reese et al.
Large language models (LLMs) show promise in supporting differential diagnosis, but their performance is challenging to evaluate due to the unstructured nature of their responses, and their accuracy compared to existing diagnostic tools is ...
Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study [0.03%]
婴儿基因组新生儿筛查结果的父母体验——来自BabyScreen +研究的结果
Erin Tutty,Anaita Kanga-Parabia,Nathasha Kugenthiran et al.
Erin Tutty et al.
Genomic newborn screening (gNBS) provides the potential to offer significant health benefits. However, more evidence, including psychosocial impacts on parents, is needed before gNBS is ready for population-level implementation. The aim of ...
A qualitative study exploring young adult's attitudes towards adopting whole genome sequencing into newborn screening programs [0.03%]
一项定性研究：探索年轻人对在新生儿筛查项目中采用全基因组测序的态度
Embedzayi Madhiri,Ming Li,Haocen Wang et al.
Embedzayi Madhiri et al.
Whole genome sequencing (WGS) has generated interest as a potential way to enhance and expand the scope of newborn screening (NBS) programs. The effective implementation of WGS in NBS programs relies on several factors, including parental p...
"It was up to me to be curious": perceptions and experiences of students with intellectual disability on genetics and health education [0.03%]
“应当对我好奇”：智力障碍学生关于遗传和健康教育的感知与体验
Jennifer Hansen,Iva Strnadová,Joanne Danker et al.
Jennifer Hansen et al.
People with intellectual disability want to learn more about their health and genetics. They want to be empowered with the knowledge and skills to make informed health and genetic healthcare choices. Little is known about what high school s...
Flexible and rapid validation of structural variation using adaptive sampling [0.03%]
灵活而快速的利用自适应采样验证结构变异
Aida Paivandy,Felix Lenner,Jesper Eisfeldt et al.
Aida Paivandy et al.
Identification of genomic rearrangements by microarrays or short-read sequencing frequently lacks information about the exact architecture and breakpoints of variants due to technical limitations. Independent verification of complex structu...
Integrating germline and tumor sequencing to improve hereditary cancer diagnosis and care [0.03%]
整合系谱和肿瘤测序以改善遗传性癌症的诊断和治疗
Richarda M de Voer,Laura Valle
Richarda M de Voer
A subset of cancers arises due to inherited germline pathogenic variants in specific genes, known as hereditary cancers. These genes typically include tumor suppressors, DNA repair and replication fidelity genes, and occasionally oncogenes....
Personal utility of genomic results: Application and validation of the PrU scale to the Australian context [0.03%]
普适性实用性量表在澳大利亚基因组结果个人实用性的应用和验证
Erin Turbitt,Kris D Rogers,Steven He et al.
Erin Turbitt et al.
The Personal Utility Scale (PrU) was developed in the United States to measure the usefulness of genomic results across self-knowledge, reproductive planning and practical benefits. We aimed to evaluate and validate the model with data from...