Genome-wide association study identifies protective genetic factors in active blood donors against multiple diseases [0.03%]
全基因组关联研究确定了积极献血者对抗多种疾病的保护性遗传因素
Jonna Clancy,Jarkko Toivonen,Jouni Lauronen et al.
Jonna Clancy et al.
The healthy donor effect (HDE) refers to the lower mortality observed among blood donors compared to the general population. While HDE arises due to healthier individuals being more likely to donate, the extent to which it is influenced by ...
Public perceptions of genetic sequencing in China: barriers and drivers of adoption [0.03%]
中国公众对基因测序的认知：采纳的阻力与动力
Liyong Lu,Shan Jiang,Yuan Wang et al.
Liyong Lu et al.
This study explores public attitudes toward genetic sequencing (GS) services in China and identifies key factors influencing adoption. Although GS has the potential to strengthen precision public health, its uptake may be constrained by soc...
Asha N Talati,Amy Mottola,Neeta L Vora
Asha N Talati
Miriam E Quinlan,Paul A Nyquist
Miriam E Quinlan
Opportunistic genomic screening of healthy controls in an Australian biobank [0.03%]
澳大利亚生物样本库中健康对照者的 opportunistic基因组筛查
Lucas A Mitchell,Mary-Anne Young,Thomas Ohnesorg et al.
Lucas A Mitchell et al.
Leveraging existing genomic data to opportunistically screen for secondary findings (SFs) can identify individuals at increased genetic risk who may be missed by criteria-based testing. While some guidelines support returning actionable SFs...
Pregnancy experiences of expectant parents with Neurofibromatosis type 1: a qualitative interview study [0.03%]
NF1患者妊娠经历的定性研究
Gamze Kaplan,Debbie M Smith,Ming Wai Wan et al.
Gamze Kaplan et al.
Pregnancy in the context of Neurofibromatosis 1 (NF1) may be emotionally complex due to uncertainties surrounding inheritance and the condition's variable presentation. This study aimed to explore how expectant parents with NF1 experience p...
Leigh Jackson,Caroline F Wright
Leigh Jackson
Revisiting LSDMCA: male lethality escape and genotype-phenotype correlations [0.03%]
LSDMCA再探：男性致死逃逸和基因型表型相关性
Alfonso Manuel D&#x;Alessio,Alessia Indrieri,Giuseppina Vitiello et al.
Alfonso Manuel D&#x;Alessio et al.
Mitochondrial disorders (MDs) are a diverse group of genetic conditions primarily affecting the oxidative phosphorylation (OXPHOS) system and cellular energy production. Among MDs, Linear Skin Defects with Multiple Congenital Anomalies (LSD...
Gene x environment interaction analysis confirms genetic modifier effects on steroid efficacy via TGF-β pathway in Duchenne muscular dystrophy [0.03%]
基因与环境相互作用分析确认了杜氏肌营养不良症中通过TGF-β途径影响皮质类固醇疗效的遗传修饰效应
Veronica J Vieland,Sang-Cheol Seok,Megan A Waldrop et al.
Veronica J Vieland et al.
This paper continues our development of methods for discovery of genetic modifiers of the Duchenne muscular dystrophy (DMD) phenotype. DMD is an X-linked recessive disorder involving progressive muscle tissue loss with replacement by fat an...
"We've done our due diligence": Experiences of reproductive genetic carrier screening in people with experiential knowledge of a genetic condition [0.03%]
“我们已经尽职尽责了”——具有基因疾病经历的知识分子在生殖遗传携带者筛查中的体验
Giorgina Maxwell,Erin Tutty,Belinda J Dawson-McClaren et al.
Giorgina Maxwell et al.
Reproductive genetic carrier screening (RGCS) provides people with information about the likelihood of having children with serious inherited genetic conditions. The perspectives of people who have experience with a genetic condition are im...