Human Genome Variation

Detecting adaptive changes in gene copy number distribution accompanying the human out-of-Africa expansion.

TACSTD2 in gelatinous drop-like corneal dystrophy: variant functional analysis and expression in the cornea after limbal stem cell transplantation

胶状滴状角膜营养不良症中的TACSTD2：角膜缘干细胞移植后角膜中的变异功能分析和表达

Epigenetic regulation of the nuclear genome associated with mitochondrial dysfunction in Leber's hereditary optic neuropathy (LHON)

与莱伯遗传性视神经病变 (LHON) 中的线粒体功能障碍相关的核基因组的表观遗传调控

Design and implementation of a hybrid cloud system for large-scale human genomic research.

Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia

患有严重扩张型心肌病和相对轻微肌张力低下的新生儿出现新的 SPEG 变异

Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform

基于BGISEQ-500平台的单核苷酸和染色体水平遗传疾病临床诊断

A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene

从一名因发烧引发复发性急性肝衰竭的婴儿身上发现的 NBAS 新变异会破坏该基因的功能

Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder

在患有镫骨强直和指关节联合综合症的患者中发现一种新的无义 NOG 突变

Functional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline

使用无监督机器学习流程对脊髓小脑共济失调患者中意义不明的变异进行功能表征

The ATRX splicing variant c.21-1G>A is asymptomatic

ATRX 剪接变体 c.21-1G>A 无症状