Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay

Uniparental disomy (UPD) occurs when a person obtains both copies of the homologous chromosome from one parent. UPD can be associated with human diseases caused by disruption of genomic imprinting or homozygosity for a recessive trait. In this report, we describe the first human case of paternal UPD for chromosome 19 in monozygotic twins showing […]

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Fine mapping MHC associations in Graves’ disease and its clinical subtypes in Han Chinese

The classical human leukocyte antigen (HLA) genes were the most important genetic determinant for Graves’ disease (GD). We applied imputation to thoroughly investigate the MHC associations with GD down to the amino acid level of classical HLA genes in 1,468 GD patients and 1,490 controls of Han Chinese. We observed the top association signal at […]

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Applications and advances of CRISPR-Cas9 in cancer immunotherapy

To date, few articles have systematically described the applications and advances of CRISPR-Cas9 in cancer immunotherapy. Immunotherapy has emerged as one of the most promising therapeutic strategies in cancer. CRISPR-Cas9 system, as an RNA-guided genome editing technology, can be implemented to fuel the production of therapeutic immune cells such as construction of chimeric antigen receptor […]

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Genetic obesity: next-generation sequencing results of 1230 patients with obesity

Obesity is a global severe health problem, highly influenced by environmental factors such as a sedentary lifestyle and unhealthy eating habits. In rare cases, a genetic defect can be identified as the main cause of obesity. Our article summarizes the genetic obesity test results of 1230 Dutch obese patients. This test included 52 obesity-associated genes. […]

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Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses

Rolandic epilepsy (RE) is the most common genetic childhood epilepsy, with focal nocturnal seizures and neurodevelopmental impairments. In this study of 186 children with RE from ethnically diverse populations, we identified rare copy number variation (CNV, large duplications or deletions of DNA) in 84. Children with RE carried CNVs that disrupt genes known to cause […]

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Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study

Prader-Willi syndrome (PWS) is the most common known cause of life-threatening obesity due to errors in genomic imprinting from chromosome 15 defects. We summarized the frequency and characterized the PWS molecular classes using advanced genomic technology in 510 individuals  as the largest cohort to date (paternal 15q11-q13 deletion in 60% of cases, maternal disomy 15 […]

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Evaluation of polygenic risk scores for ovarian cancer risk prediction in a prospective cohort study

Identifying women at high epithelial ovarian cancer (EOC) risk can inform personalised decisions on risk-reducing surgery and can facilitate early detection strategies. Genome-wide association studies have identified >30 single nucleotide polymorphisms (SNPs) associated with EOC. We evaluated their combined effects (polygenic risk scores – PRS) on EOC risk and assessed their implications for EOC risk […]

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Old gene, new phenotype: Splicing altering variants in CEACAM16 cause recessive non-syndromic hearing impairment

CEACAM16 is an adhesion protein that plays a critical role in ensuring proper auditory function.  Defects in this protein have been linked to dominant hearing loss through a dominant-negative mechanism. Here we report that novel splice-altering variants in CEACAM16 gene are associated with autosomal recessive nonsyndromic hearing loss. Our findings broaden the pathogenic mechanisms of […]

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Genetic and phenotypic difference in CD8+ T cell exhaustion between chronic hepatitis B infection and hepatocellular carcinoma

To date, few studies have investigated the differences in T cell exhaustion between chronic infection and cancer. In this study, we assayed the phenotypes and functional states of CD8+ T cells separating from human chronic hepatitis B (CHB) tissues and hepatocellular carcinoma (HCC) tissues, and re-analyze the single-cell sequencing data (GSE98638) of T cells from […]

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