Genotyping TOMM40'523 Poly-T Polymorphisms Using Whole-Genome Sequencing [0.03%]
利用全基因组测序对TOMM40的523位多聚T核苷酸多态性进行基因分型
Ricardo A Vialle,Lei Yu,Yan Li et al.
Ricardo A Vialle et al.
The TOMM40'523 poly-T repeat polymorphism (rs10524523) has been associated with cognitive decline and Alzheimer's disease (AD) progression. Challenges in processing whole-genome sequencing (WGS) data traditionally require additional PCR and...
Evaluation of SLC6A8 Species Conservation and the Effect of Pathogenic Variants on Creatine Transport [0.03%]
SLC6A8种系保护评估及其致病变异对肌酸转运的影响评估
Taryn Diep,Gerald S Lipshutz
Taryn Diep
Creatine phosphate is a high energy molecule essential for normal function of highly metabolically active organs and tissues. SLC6A8 encodes the only known creatine transporter in humans (CRT1); pathogenic variants result in a neurophenotyp...
A Specialized Reference Panel with Structural Variants Integration for Improving Genotype Imputation in Alzheimer's Disease and Related Dementias (ADRD) [0.03%]
一个专门的参考面板，通过整合结构变异来改善阿尔茨海默病及相关痴呆症（ADRD）基因型的外推精度
Po-Liang Cheng,Hui Wang,Beth A Dombroski et al.
Po-Liang Cheng et al.
We developed an imputation panel for Alzheimer's disease (AD) and related dementias (ADRD) using 15,958 whole-genome sequencing (WGS) samples from the Alzheimer's Disease Sequencing Project (ADSP). Recognizing the importance of associations...
Differential performance of polygenic risk scores for coronary heart disease in Hispanic/Latino subgroups: Findings of the Hispanic Community Health Study/Study of Latinos [0.03%]
遗传风险评分在不同西班牙裔人群中的差异表现：来自Hispanic社区健康研究的研究发现
Christina G Hutten,Frederick J Boehm,Jennifer A Smith et al.
Christina G Hutten et al.
Coronary heart disease (CHD) is a leading cause of death among Hispanics/Latinos in the U.S. whose underrepresentation in genomic research may worsen health disparities. We evaluated predictive performance of polygenic risk scores (PRSs) fo...
De Novo Missense Variants in CHTF18: The Potential to Expand the Clinical Spectrum of Cohesinopathies [0.03%]
CHTF18基因错义变异物的研究：扩大粘着粒蛋白病临床谱系的潜在可能
Erfan Aref-Eshghi,Ingrid M Wentzensen,Tawfeg Ben-Omran et al.
Erfan Aref-Eshghi et al.
Cohesin is a multiprotein complex that maintains chromosome integrity during cell division. Disruptions in cohesin or its regulators, including CHTF18, can lead to neurodevelopmental and congenital disorders known as cohesinopathies. CHTF18...
Phasing millions of samples achieves near perfect accuracy, enabling parent-of-origin analyses [0.03%]
分期百万样本可实现近似完美准确性，从而能够进行亲本起源分析
Cole M Williams,Jared O&#x;Connell,Ethan Jewett et al.
Cole M Williams et al.
Haplotype phasing, the process of determining which genetic variants are physically located on the same chromosome, is crucial for genetic analyses. Here, we benchmark SHAPEIT and Beagle, two state-of-the-art phasing methods, on two large d...
Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53 [0.03%]
预测高风险癌症易感基因TP53中减少外显率变异的特征
Cristina Fortuno,Marcy E Richardson,Tina Pesaran et al.
Cristina Fortuno et al.
Disease-causing variants with penetrance that is lower than the average expected for a given gene complicate classification, even when using gene-specific guidelines. For TP53, a gene associated with some of the highest cancer risks, even r...
Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9 [0.03%]
双等位基因胚系MCM8和MCM9变异相关的临床综合征
Noah C Helderman,Ting Yang,Claire Palles et al.
Noah C Helderman et al.
MCM8 and MCM9 are newly proposed cancer predisposition genes, linked to polyposis and early-onset cancer, in addition to their previously established association with hypogonadism. Given the uncertain range of phenotypic manifestations and ...
Mackenzie A Michell-Robinson,Stefanie Perrier,Samuel Gauthier et al.
Mackenzie A Michell-Robinson et al.
RNA Polymerase III (POLR3)-related disorders (POLR3-RD) are a group of clinical entities characterized by causal variants in genes encoding Pol III subunits, including POLR3A, POLR3B, POLR1C, POLR1D, POLR3D, POLR3E, POLR3F, POLR3GL, POLR3H,...
Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome [0.03%]
CTNNB1神经发育障碍的基因型、功能和表型特征分析
Nina Žakelj,David Gosar,Špela Miroševič et al.
Nina Žakelj et al.
CTNNB1 neurodevelopmental syndrome is a rare disorder caused by de novo heterozygous variants in the CTNNB1 gene encoding β-catenin. This study aims to characterize genetic variants in individuals with CTNNB1 neurodevelopmental syndrome, s...