Search Results - "YOON, Seungtai"
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Sensitive and accurate detection of copy number variants using read depth of coverage
Published in Genome Research (01-09-2009)“…Methods for the direct detection of copy number variation (CNV) genome-wide have become effective instruments for identifying genetic risk factors for disease…”
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The contribution of de novo coding mutations to autism spectrum disorder
Published in Nature (London) (13-11-2014)“…Whole exome sequencing has proven to be a powerful tool for understanding the genetic architecture of human disease. Here we apply it to more than 2,500…”
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Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders
Published in Neuron (Cambridge, Mass.) (09-06-2011)“…To explore the genetic contribution to autistic spectrum disorders (ASDs), we have studied genomic copy-number variation in a large cohort of families with a…”
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High Frequencies of De Novo CNVs in Bipolar Disorder and Schizophrenia
Published in Neuron (Cambridge, Mass.) (22-12-2011)“…While it is known that rare copy-number variants (CNVs) contribute to risk for some neuropsychiatric disorders, the role of CNVs in bipolar disorder is…”
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Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia
Published in Nature (London) (24-03-2011)“…Rare copy number variants (CNVs) have a prominent role in the aetiology of schizophrenia and other neuropsychiatric disorders. Substantial risk for…”
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IPCC7: Post-Quantum Encryption Scheme Based on a Perfect Dominating Set in 3-Regular Graph
Published in IEEE access (01-01-2024)“…Post-quantum cryptography (PQC) has been actively explored to meet the requirements arising with the rapid development of quantum computers. The National…”
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Rates of contributory de novo mutation in high and low-risk autism families
Published in Communications biology (01-09-2021)“…Autism arises in high and low-risk families. De novo mutation contributes to autism incidence in low-risk families as there is a higher incidence in the…”
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Characterization of SLITRK1 variation in obsessive-compulsive disorder
Published in PloS one (21-08-2013)“…Obsessive compulsive disorder (OCD) is a syndrome characterized by recurrent and intrusive thoughts and ritualistic behaviors or mental acts that a person…”
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Identification of genes and variants associated with quantitative traits using Bayesian factor screening
Published in BMC proceedings (29-11-2011)“…We propose a factor-screening method based on a Bayesian model selection framework and apply it to Genetic Analysis Workshop 17 simulated data with unrelated…”
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Detecting common copy number variants in high-throughput sequencing data by using JointSLM algorithm
Published in Nucleic acids research (01-05-2011)“…The discovery of genomic structural variants (SVs), such as copy number variants (CNVs), is essential to understand genetic variation of human populations and…”
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Patterns and rates of exonic de novo mutations in autism spectrum disorders
Published in Nature (London) (10-05-2012)“…Exome sequencing of 175 autism spectrum disorder parent–child trios reveals that few de novo point mutations have a role in autism spectrum disorder and those…”
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De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability
Published in Molecular psychiatry (01-06-2014)“…Schizophrenia is a serious psychiatric disorder with a broadly undiscovered genetic etiology. Recent studies of de novo mutations (DNMs) in schizophrenia and…”
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A tumour suppressor network relying on the polyamine–hypusine axis
Published in Nature (London) (12-07-2012)“…AMD1 and eIF5A are identified as two genes involved in the polyamine–hypusine pathway, a new tumour suppressor network regulating apoptosis. A two-hit tumour…”
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Strong Association of De Novo Copy Number Mutations with Autism
Published in Science (American Association for the Advancement of Science) (20-04-2007)“…We tested the hypothesis that de novo copy number variation (CNV) is associated with autism spectrum disorders (ASDs). We performed comparative genomic…”
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AnnTools: a comprehensive and versatile annotation toolkit for genomic variants
Published in Bioinformatics (Oxford, England) (01-03-2012)“…AnnTools is a versatile bioinformatics application designed for comprehensive annotation of a full spectrum of human genome variation: novel and known…”
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Sharing parental genomes by siblings concordant or discordant for autism
Published in Cell genomics (14-06-2023)“…Studying thousands of families, we find siblings concordant for autism share more of their parental genomes than expected by chance, and discordant siblings…”
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Novel patterns of genome rearrangement and their association with survival in breast cancer
Published in Genome Research (01-12-2006)“…Representational Oligonucleotide Microarray Analysis (ROMA) detects genomic amplifications and deletions with boundaries defined at a resolution of…”
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Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA
Published in Genomics (San Diego, Calif.) (01-10-2013)“…Two common sources of DNA for whole exome sequencing (WES) are whole blood (WB) and immortalized lymphoblastoid cell line (LCL). However, it is possible that…”
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Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia
Published in Human genetics (01-03-2012)“…Dystonias are a clinically and genetically heterogeneous group of movement disorders characterized by involuntary, sustained muscular contractions affecting…”
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Finding Disease Variants in Mendelian Disorders By Using Sequence Data: Methods and Applications
Published in American journal of human genetics (09-12-2011)“…Many sequencing studies are now underway to identify the genetic causes for both Mendelian and complex traits. Via exome-sequencing, genes harboring variants…”
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