Optical Mapping in Black Genomes: Distinct LCR22 Structures and 22q11.2 Deletion Syndrome Mechanisms [0.03%]
光学图谱在黑人基因组中的应用：LCR22的不同结构及22q11.2缺失综合征的发病机制
Steven Pastor,Oanh Tran,Ryan Lapointe et al.
Steven Pastor et al.
Purpose: The genomic architecture of 22q11.2 Deletion Syndrome (22q11.2DS) has primarily been studied in White populations, despite evidence suggesting a lower prevalence in Black individuals. This study aims to improve o...
Venglustat in GM2 Gangliosidoses and Related Disorders: Results of the AMETHIST Randomized Controlled and Basket Trials [0.03%]
GM2 gangliosidoses和相关疾病中的venglustat：AMETHIST随机对照及篮子试验结果
Cynthia J Tifft,Isabela Batsu,Roberto Giugliani et al.
Cynthia J Tifft et al.
Purpose: To evaluate efficacy and safety of venglustat for GM2 gangliosidoses (Tay-Sachs and Sandhoff diseases) and cognate diseases. Methods: ...
Opportunistic screening for broad range of medically relevant secondary findings: Laboratory benefits and burdens [0.03%]
广泛开展医学相关性次要发现的机会性筛查：实验室的获益与负担
Chloe Mighton,Emma Reble,Jordan Sam et al.
Chloe Mighton et al.
Purpose: Exome and genome sequencing enable opportunistic screening for secondary findings (SFs). We report on exome analysis for a broad range of medically relevant SFs in the setting of the Incidental Genomics randomize...
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2 [0.03%]
ClinGen严重联合免疫缺陷疾病变异解读专家小组：ADA、DCLRE1C、IL2RG、IL7R、JAK3、RAG1和RAG2基因变异分类规范
Vanessa C Jacovas,Michelle Zelnick,Shannon McNulty et al.
Vanessa C Jacovas et al.
Purpose: This collaborative study, led by the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel (ClinGen SCID-VCEP), implemented and adapted the American College of Medical Ge...
Ten years of exome sequencing and reanalysis among racial, ethnic, and ancestral groups: The importance of equitable reanalysis access [0.03%]
外显子组测序和再分析十年：种族、族裔和世系群体的公平再分析访问权限的重要性
Andrew Giles,Kimberly Zayhowski,Maggie Ruderman et al.
Andrew Giles et al.
Purpose: Race, ethnicity, and ancestry (REA) affect the diagnostic utility of genetic testing. In addition to barriers to accessing genetics services, some non-European REA groups experience decreased diagnostic results a...
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: a retrospective cohort study [0.03%]
筛选罕见遗传性诊断以定制反义寡核苷酸治疗开发的适用性：一项回顾性队列研究
David Cheerie,Marlen C Lauffer,Logan Newton et al.
David Cheerie et al.
Purpose: To estimate the proportion of molecular genetic diagnoses in a real-world, phenotypically heterogeneous patient cohort that are amenable to antisense oligonucleotide (ASO) treatment. ...
Awareness, knowledge, and attitudes toward polygenic risk scores for breast cancer in multiethnic high-risk cohorts of women [0.03%]
多民族高风险妇女群体中乳腺癌多基因风险评分的意识、知识和态度
Jincong Q Freeman,Yijia Sun,Wenji Guo et al.
Jincong Q Freeman et al.
Purpose: To examine awareness, knowledge, and attitudes toward breast cancer (BC) polygenic risk scores (PRS) in high-risk women. Methods: ...
Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial [0.03%]
罕见病诊断中外显子组测序和基因组测序性能的比较：一项随机实施效果试验
Robin Z Hayeems,Wendy J Ungar,Christian R Marshall et al.
Robin Z Hayeems et al.
Purpose: Exome sequencing (ES) and genome sequencing (GS) can improve rare disease diagnosis but are not routinely available in many jurisdictions. To inform implementation, we report on a randomized implementation effect...
Reduction of False-Positive Results With Biochemical Second-Tier Testing for Newborn Screening of Pompe Disease [0.03%]
新生儿庞培病筛查中采用生化二线检测减少假阳性结果
Ibrahim T Khoja,Dawn S Peck,Dimitar K Gavrilov et al.
Ibrahim T Khoja et al.
Purpose: To review the performance and outcomes of a second-tier newborn screening test for Pompe disease. Methods: We followed our pre...
Common and Rare Genetic Variants Explain Distinct Diagnostic Variance in Pediatric Attention Deficit Hyperactivity Disorder [0.03%]
儿童注意缺陷多动障碍的常见和罕见遗传变异解释了不同的诊断差异
Anne B Arnett,Ryan Koesterer,Paulina Gonzalez Tovar et al.
Anne B Arnett et al.
Purpose: Pediatric attention deficit hyperactivity disorder (ADHD, MIM: 143465) is highly heritable, yet the genetic architecture of the condition remains poorly understood. The current study tested the hypothesis that ra...