Rapid functional RNA Analysis via amniocyte transdifferentiation resolves prenatal variant ambiguity in fetal akinesia syndrome [0.03%]
快速功能RNA分析通过羊水细胞重编程解决胎儿运动障碍综合征产前变异模糊性
Yiming Qi,Jiahui Sun,Wei He et al.
Yiming Qi et al.
Mar Giner-Calabuig,Seila De Leon,Gemma Vidal-Pedrola et al.
Mar Giner-Calabuig et al.
Purpose: Lynch-like syndrome (LLS) is associated with an incomplete understanding of its molecular basis. Some LLS tumors harbor somatic variants in mismatch repair genes, whereas germline variants in other DNA repair gen...
Christina G Tise,Sophia M Adelson,Elizabeth B Garrity et al.
Christina G Tise et al.
Findings from comprehensive genome sequencing in the Canadian population: Results from the GENCOV Study [0.03%]
加拿大人口全面基因组测序结果：来自GENCOV研究的发现
Selina Casalino,Navneet Aujla,Erika Frangione et al.
Selina Casalino et al.
Purpose: Opportunistic genome sequencing (GS) allows for the return of findings to clinical and research cohorts. We report on comprehensive GS results from the GENCOV study in Ontario, Canada. ...
"It is important to me to know where the information is going": Views of adults with intellectual disability on data sharing in precision medicine research [0.03%]
“了解信息的去向对我来说很重要”：智力障碍成年人对精准医学研究中数据共享的看法
Maya Sabatello,Mark Cooley,Eulena Banzer et al.
Maya Sabatello et al.
Purpose: Adults with intellectual disability can benefit from precision medicine research (PMR) but their participation in general studies is limited. Although data sharing may be critical for scientific findings to emerg...
Health actions after direct-to-consumer genetic testing for medically actionable conditions [0.03%]
直接面向消费者的与医疗有关的基因检测后的行动
Amy C Sturm,Stacey Detweiler,Jessica Bielenberg et al.
Amy C Sturm et al.
Purpose: Millions of individuals have undergone direct-to-consumer genetic testing (DTC-GT), which can include results for medically actionable conditions. We sought to determine whether individuals with DTC-GT results fo...
Unravelling ring chromosome structures and formation mechanisms by short-read and long-read genomic sequencing [0.03%]
通过短读长和长读长基因组测序解开环状染色体结构及形成机制
Mei Ling Chong,Bruna Burssed,Chen Zhao et al.
Mei Ling Chong et al.
Purpose: Ring chromosomes (RCs) are rare cytogenetic abnormalities involving copy-number variants and chromosome instability. Identifying the breakage-fusion sequences of RCs at nucleotide-level resolution can elucidate t...
Rates of unbalanced chromosome rearrangements associated with pericentric and paracentric inversions: Analysis of molecular chromosome results in embryo samples [0.03%]
胚胎样本分子核型检测结果中臂内倒位不分离率分析
Katrina Merrion,Jessica Adsit,Katherine L Howard et al.
Katrina Merrion et al.
Purpose: To evaluate the outcomes of preimplantation genetic testing for structural rearrangements for individuals with pericentric or paracentric inversions undergoing in vitro fertilization. ...
Evaluating and monitoring liver disease severity in glycogen storage disease type IX: Performance of novel and established clinical scores [0.03%]
评价和监测糖原贮积病Ⅸ型肝病严重程度：新型和现有临床评分的表现
Anna Paschall,Rebecca L Koch,Alisha M Mavis et al.
Anna Paschall et al.
Purpose: Hepatic glycogen storage disease type IX (GSD IX) results from a deficiency of phosphorylase kinase. A noninvasive method of monitoring liver disease severity in this population is unavailable and liver biopsy re...
Lyso-Gb3 in a Fabry pediatric cohort diagnosed by newborn screening [0.03%]
新生儿筛查确诊的法布雷患儿队列中的Gb3分子量分布
Alessandro P Burlina,Vincenza Gragnaniello,Chiara Edini et al.
Alessandro P Burlina et al.
Purpose: Fabry disease (FD), an X-linked lysosomal storage disorder caused by the deficiency of α-galactosidase A, results in the accumulation of globotriaosylceramide and its deacylated derivative globotriaosylsphingosi...