期刊： BMC MEDICAL GENOMICS, 2021; 14 (1)
Background Colorectal cancer (CRC) is the second most prevalent cancer, as it accounts for approximately 10% of all annually diagnosed cancers. Studie......
期刊： BMC MEDICAL GENOMICS, 2021; 14 (1)
BackgroundInherited hypertrophic cardiomyopathy (HCM) is a common heart muscle disease that damages heart function and may cause the heart to suddenly......
期刊： BMC MEDICAL GENOMICS, 2021; 14 (1)
BackgroundDown syndrome is characterized by trisomy 21 or partial duplication of chromosome 21. Extensive studies have focused on the identification o......
期刊： BMC MEDICAL GENOMICS, 2021; 14 (1)
Background Oculocerebrorenal syndrome of Lowe is a rare X-linked disorder characterized by congenital cataracts, mental retardation, and proximal tubu......
期刊： BMC MEDICAL GENOMICS, 2021; 14 (1)
Background Genetic diversity of the human LPA gene locus is associated with high plasma concentrations of lipoprotein(a) [Lp(a)]. High Lp(a) concentra......
期刊： BMC MEDICAL GENOMICS, 2021; 14 (1)
Background Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature, ab......
期刊： BMC MEDICAL GENOMICS, 2021; 14 (SUPPL 1)
Background Huntington's disease is a kind of chronic progressive neurodegenerative disease with complex pathogenic mechanisms. To data, the pathogenes......
期刊： BMC MEDICAL GENOMICS, 2021; 14 (1)
Objective To investigate the potential association of cochlear clock genes (CRY1, CRY2, PER1, and PER2), the DNF gene (brain-derived neurotrophic fact......
期刊： BMC MEDICAL GENOMICS, 2021; 14 (1)
Background alpha-thalassemia is relatively endemic in Guizhou province of southwestern China. To predict the clinical manifestations of alpha-globin g......
期刊： BMC MEDICAL GENOMICS, 2021; 14 (1)
Background Calcific aortic valve disease (CAVD) is the most common subclass of valve heart disease in the elderly population and a primary cause of ao......
期刊： BMC MEDICAL GENOMICS, 2021; 14 (1)
BackgroundMalignant pleural mesothelioma (MPM) is a rare tumor in the pleura. This study was carried out to identify key genes and pathways that may b......
期刊： BMC MEDICAL GENOMICS, 2021; 14 (1)
Background Variants identified through parent-child trio-WES yield up to 28-55% positive diagnostic rate across a variety of Mendelian disorders, ther......
期刊： BMC MEDICAL GENOMICS, 2021; 14 (1)
Background Evidence from genetic epidemiology indicates that type 2 diabetes (T2D) has a strong genetic basis. Activated STAT4 has an inflammatory eff......
期刊： BMC MEDICAL GENOMICS, 2021; 14 (SUPPL 1)
Background Clinically, behavior, cognitive, and mental functions are affected during the neurodegenerative disease progression. To date, the molecular......
