Improvement of variant reclassification in genetic neurodevelopmental conditions [0.03%]
遗传神经发育障碍的变异再分类改进
Michelle Kowanda,Rebecca Sheedy Smith,Jamie Lundy et al.
Michelle Kowanda et al.
Purpose: Limited knowledge about disease mechanisms, few published cases, and the lack of functional assessment of variants for neurodevelopmental genetic disorders challenge diagnostic classification for variants and inc...
Integrative computational analyses implicate regulatory genomic elements contributing to spina bifida [0.03%]
整合计算分析指出了调节基因组元件可导致神经管缺陷.spina bifida即神经管缺陷的一种类型。因此将标题简化为更一般的表述。
Paul Wolujewicz,Vanessa Aguiar-Pulido,Gaurav Thareja et al.
Paul Wolujewicz et al.
Purpose: Spina bifida (SB) arises from complex genetic interactions that converge to interfere with neural tube closure. Understanding the precise patterns conferring SB risk requires a deep exploration of the genomic net...
Genetic counselors' perspectives on genomic screening of apparently healthy newborns in the United States [0.03%]
美国遗传咨询师对健康新生儿基因组筛查的观点
Maya C Del Rosario,Kathleen B Swenson,Stephanie Coury et al.
Maya C Del Rosario et al.
Purpose: There is growing international interest in using genomic sequencing to screen newborns and children for treatable genomic conditions. Although recent research has demonstrated increasing support for using genomic...
ARID1B-related disorder in 87 adults: Natural history and self-sustainability [0.03%]
ARID1B相关成人综合征的自然史和自主生活能力分析
P J van der Sluijs,M Gösgens,A J M Dingemans et al.
P J van der Sluijs et al.
Purpose: ARID1B is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with ARID1B-related disorder have been described, which limits our understanding of the dis...
ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics [0.03%]
阿根廷酶1缺乏症的 ACMG/AMP变异分类框架：对出生流行率估计和诊断的影响
Jessie M Cameron,Mayowa Azeez Osundiji,Rory J Olson et al.
Jessie M Cameron et al.
Purpose: Arginase 1 (ARG1) deficiency manifests with hyperargininemia and progressive neurological impairment. Recent estimates of birth prevalence using allele frequencies of ARG1 variants do not sufficiently distinguish...
Combined bioinformatic and splicing analysis of likely benign intronic and synonymous variants reveals evidence for pathogenicity [0.03%]
生物信息学和剪接分析结合揭示良性内含子变异和同义变异致病性的证据
Owen R Hirschi,Stephanie A Felker,Surya P Rednam et al.
Owen R Hirschi et al.
Purpose: Clinical variant analysis pipelines likely have poor sensitivity to the effects on splicing from variants beyond 10 to 20 bases of exon-intron boundaries. Here, we demonstrate the value of SpliceAI to inform cura...
Ascertainment of uninterrupted CAG repeat length and disease-modifying variants in fragment-based genetic testing for Huntington Disease [0.03%]
基于片段的亨廷顿舞蹈病基因检测中CAG重复长度的测定及疾病修饰变异的确证
Hailey Findlay Black,Chris Kay,Jessica Dawson et al.
Hailey Findlay Black et al.
Purpose: In Huntington disease (HD), synonymous variants causing loss or duplication of the interrupting CAA codon in the HTT CAG repeat modify disease onset. These variants are undetectable during HD genetic testing, res...
Living with a child with MSUD: Psychosocial issues of Filipino parents with a child with maple syrup urine disease [0.03%]
与MSUD儿童共同生活： maple syrup尿病菲律宾父母的心理社会问题
Ma-Am Joy R Tumulak,Carmencita D Padilla,Jose Carlo E Ongchangco et al.
Ma-Am Joy R Tumulak et al.
Purpose: Maple syrup urine disease (MSUD) is a common inborn error of metabolism diagnosed in the Philippines. A family may experience stress, anxiety, sorrow, or feelings of helplessness when a child is diagnosed to have...
Genetic diagnosis of facioscapulohumeral muscular dystrophy type 1 using rare-variant linkage analysis and long-read genome sequencing [0.03%]
利用罕见变异连锁分析和长读测序进行面肩肱型肌营养不良症1型的基因诊断
Kun Li,Daniel Quiat,Fei She et al.
Kun Li et al.
Facioscapulohumeral dystrophy type 1 (FSHD1) is a progressive, debilitating skeletal myopathy that requires a multimodal approach for complete molecular characterization of pathogenic genotypes. Here, we report genomic analyses of a family ...
Next-generation variant exon screening: Moving forward in routine genetic disease investigations [0.03%]
下一代变异外显子筛选：在常规遗传病调查中的应用和发展
Conghui Wang,Panlai Shi,Hongbin Liang et al.
Conghui Wang et al.
Purpose: Patients with genetic diseases often seek testing to reach a firm diagnosis. Based on clinical phenotypes, exome sequencing for small-nucleotide variations or array-based methods for copy-number variations (CNVs)...