AncientProxy: A catalog of ancient proxies for modern genetic variants [0.03%]
AncientProxy：现代遗传变异的古代替代目录
Colin M Brand,John A Capra
Colin M Brand
Ancient DNA provides an extraordinary perspective on many fundamental questions in human genetics, including understanding the evolutionary history of variants that underlie human phenotypes. However, most publicly available ancient human g...
Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss [0.03%]
ATOH1的显性和隐性变异分别导致具有听力损失的不同神经发育障碍
Nicole Bertola,Eléonore Blondiaux,Madeleine Harion et al.
Nicole Bertola et al.
ATOH1 encodes a basic helix-loop-helix transcription factor critical for hindbrain development and mechanosensory system formation. While animal models have provided extensive functional insights, few human disease-causing variants in ATOH1...
Competition in human genetic technologies: The current US legal landscape [0.03%]
人类遗传技术领域的竞争：当前美国的法律格局
Abdulai I Rashid,Nicole A Rincon,Nathan Rihani et al.
Abdulai I Rashid et al.
Competition plays a crucial role in driving innovation in the industry of human genetics and genomics technologies. However, the US's policy on competition (such as enforcement of antitrust laws) has shifted over time, affecting the level o...
MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy [0.03%]
MDGA2功能丧失型变异可导致发育性和癫痫性脑病
Heba Morsy,Hyeonho Kim,Gyubin Jang et al.
Heba Morsy et al.
MDGA2 encodes a membrane-associated protein that is critical for regulating glutamatergic synapse development, modulating neuroligins (Nlgns), and maintaining excitatory-inhibitory synaptic balance. While MDGA2 functions have been extensive...
A gene-specific variance-control approach corrects polygenicity-driven inflation observed in transcriptome-wide association studies [0.03%]
一种基因特异方差控制方法矫正了转录组广泛关联研究中多基因性导致的通货膨胀现象
Yanyu Liang,Festus Nyasimi,Hae Kyung Im
Yanyu Liang
Transcriptome-wide association studies (TWASs) and related methods (xWASs) have been widely adopted in genetic studies to understand molecular traits as mediators between genetic variation and disease. However, the effect of polygenicity on...
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders [0.03%]
神经粘附分子星细胞牵引素1基因ASTN1双等位基因变异导致多种神经发育障碍
Jesse M Levine,Daniel G Calame,Riccardo Sangermano et al.
Jesse M Levine et al.
ASTN1 encodes astrotactin 1, a neuronal-glial ligand in the developing brain that promotes neuronal migration along radial glia in brain structures with laminar organization, such as the cerebral cortex, hippocampus, and cerebellum. In mous...
Evaluating multi-ancestry genome-wide association methods: Statistical power, population structure, and practical implications [0.03%]
评估多祖先全基因组关联分析方法：统计功效、群体结构和实际应用意义
Julie-Alexia Dias,Tony Chen,Hua Xing et al.
Julie-Alexia Dias et al.
Xinyu Yan,Amy L Roberts,Julia S El-Sayed Moustafa et al.
Xinyu Yan et al.
Fatty acids are important as structural components, energy sources, and signaling mediators. While studies have extensively explored genetic regulation of fatty acids in serum and other bodily fluids, their regulation within adipose tissue,...
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies [0.03%]
ACTB和ACTG1相关非肌肉肌动蛋白病的分子基因型表型关联
Nataliya Di Donato;NMA Consortium;Andrew Thom,Andreas Rump,Johannes N Greve et al.
Nataliya Di Donato;NMA Consortium;Andrew Thom et al.
Recent advances in Mendelian genomics reveal the importance of variant-level characterization of allelic disorders. Non-muscle actin isoforms, encoded by the genes ACTB and ACTG1, are the most abundant intracellular proteins, but historical...
LiMA: Robust inference of molecular mediation from summary statistics [0.03%]
利用汇总统计数据进行分子中介稳健推断的方法(LiMA)
Kaido Lepik,Chiara Auwerx,Marie C Sadler et al.
Kaido Lepik et al.
Understanding the molecular mechanisms mediating the causal effects of epidemiological risk factors on complex traits can advance targeted disease interventions. Statistical mediation analysis facilitates this by disentangling direct and in...