Search
Search Results
-
Analysis of Genetic Factors of Sporadic Schizophrenia in Family Trios Using Whole-Genome Sequencing
Schizophrenia is a mental disorder, the hereditary nature of which has been confirmed by numerous studies. Currently, more than a hundred genetic...
-
Uniparental disomy in a population of 32,067 clinical exome trios
PurposeData on the clinical prevalence and spectrum of uniparental disomy (UPD) remain limited. Trio exome sequencing (ES) presents a comprehensive...
-
Comprehensive de novo mutation discovery with HiFi long-read sequencing
BackgroundLong-read sequencing (LRS) techniques have been very successful in identifying structural variants (SVs). However, the high error rate of...
-
Identification Information Value of Standard Autosomal STR in Populations of Indigenous Peoples of Russia in Determination of First Degree Relationship
AbstractThe effects of the demographic history of mankind have led to the fact that the indigenous peoples of Dagestan and Siberia are inferior in...
-
Exome sequencing in schizophrenia-affected parent–offspring trios reveals risk conferred by protein-coding de novo mutations
Protein-coding de novo mutations (DNMs) are significant risk factors in many neurodevelopmental disorders, whereas schizophrenia (SCZ) risk...
-
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP) and their biological parents. We classified 37 of 327 (11.3%)...
-
Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report
BackgroundUniparental disomy (UPD) is defined as an inheritance of two chromosomes from only one of the parents with no representative copy from the...
-
Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21
Orofacial clefts (OFCs) are among the most prevalent craniofacial birth defects worldwide and create a significant public health burden. The majority...
-
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
Genome sequencing (GS) can identify novel diagnoses for patients who remain undiagnosed after routine diagnostic procedures. We tested whether GS is...
-
Exome sequencing in obsessive–compulsive disorder reveals a burden of rare damaging coding variants
Obsessive–compulsive disorder (OCD) affects 1–2% of the population, and, as with other complex neuropsychiatric disorders, it is thought that rare...
-
Identification of Pathogenic CNVs in Unexplained Developmental Disabilities Using Exome Sequencing: A Family Trio Study
AbstractThis short report on a family case-study provides evidence of the effectiveness of exome sequencing of family trios (proband-parents) as the...
-
Distinction between the effects of parental and fetal genomes on fetal growth
Birth weight is a common measure of fetal growth that is associated with a range of health outcomes. It is directly affected by the fetal genome and...
-
A family-based study of genetic and epigenetic effects across multiple neurocognitive, motor, social-cognitive and social-behavioral functions
Many psychiatric and neurodevelopmental disorders are known to be heritable, but studies trying to elucidate the genetic architecture of such traits...
-
-
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis
Lambdoid craniosynostosis (CS) is a congenital anomaly resulting from premature fusion of the cranial suture between the parietal and occipital...
-
Contributions of de novo variants to systemic lupus erythematosus
By performing whole-genome sequencing in a Swedish cohort of 71 parent-offspring trios, in which the child in each family is affected by systemic...
-
Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies
BackgroundBirth defects are responsible for approximately 7% of neonatal deaths worldwide by World Health Organization in 2004. Many methods have...
-
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes
Type 1 Chiari malformation (C1M) is characterized by cerebellar tonsillar herniation of 3–5 mm or more, the frequency of which is presumably much...
-
The role of CDHR3 in susceptibility to otitis media
AbstractOtitis media (OM) is common in young children and can cause hearing loss and speech, language, and developmental delays. OM has high...
-
Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases
BackgroundWhole-exome sequencing (WES) significantly improves the diagnosis of the etiology of fetal structural anomalies. This study aims to...
