نتایج جستجو برای: exome
تعداد نتایج: 8594 فیلتر نتایج به سال:
Whole exome sequencing (WES) was performed on stem cell transplant donor-recipient (D-R) pairs to determine the extent of potential antigenic variation at a molecular level. In a small cohort of D-R pairs, a high frequency of sequence variation was observed between the donor and recipient exomes independent of human leucocyte antigen (HLA) matching. Nonsynonymous, nonconservative single nucleot...
Background Neurofibromatosis is an autosomal dominant disease. It affects one in 2,700 to 3,300 people. The main gene mutated in the disease is a tumor suppressor protein called neurofibromin. There are several categories, the most important of which is divided into two types of type I and type 2 neurofibromatosis. Here, we aimed to identify th...
Neurology 2012;79:112–114 Extraordinary advances in genetics and genomics are revolutionizing the practice of medicine. In this issue of Neurology, 3 articles demonstrate the utility of exome sequencing for identifying the genetic cause of neurologic disorders. This issue represents a landmark in neurogenetics: the concurrent publication of 3 such examples highlights the rapidly changing landsc...
Short Report Title: Evaluating the genetic diagnostic power of exome sequencing: Identifying missing data. Running title: Identifying missing data in exome sequencing Authors: Pascual Lorente-Arencibia BEng, Deyán Guacarán BEng, Antonio Tugores PhD Affiliation: Unidad de Investigación, Complejo Hospitalario Universitario Insular Materno Infantil, Las Palmas de Gran Canaria, Spain. Corresponding...
Summary: Although the 1000 Genomes haplotypes are the most commonly used reference panel for imputation, medical sequencing projects are generating large alternate sets of sequenced samples. Imputation in African Americans using 3384 haplotypes from the Exome Sequencing Project, compared with 2184 haplotypes from 1000 Genomes Project, increased effective sample size by 8.3–11.4% for coding vari...
Copy number variation (CNV) is a common source of genetic variation that has been implicated in many genomic disorders, Mendelian diseases, and common/complex traits. Genomic microarrays are often employed for CNV detection. More recently, whole-exome sequencing (WES) has enabled detection of clinically relevant point mutations and small insertion-deletion exome wide. We evaluated (de Ligt et a...
Nadine Norton, PhD1, Duanxiang Li, MD, MS1, Evadnie Rampersaud, PhD2, Ana Morales, MS, CGC1, Eden R. Martin, PhD2, Stephan Zuchner, MD2, Shengru Guo, MS2, Michael Gonzalez, BSc2, Dale J. Hedges, PhD2, Peggy D. Robertson, PhD3, Niklas Krumm, BA3, Deborah A. Nickerson, PhD3, and Ray E. Hershberger, MD1 on behalf of the National Heart Lung and Blood Institute GO Exome Sequencing Project & the Exom...
Autosomal recessive cerebellar ataxia encompasses a large and heterogeneous group of neurodegenerative disorders. We employed single nucleotide polymorphism (SNP) analysis and whole exome sequencing to investigate a consanguineous Maori pedigree segregating ataxia. We identified a novel mutation in exon 10 of the SACS gene: c.7962T>G p.(Tyr2654*), establishing the diagnosis of autosomal recessi...
An association of congenital diaphragmatic hernia, dandy walker malformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings of few variants especially a novel variation in HIRA provided some insights. An association of co...
Motivations The recent advances in the technologies and strategies for DNA sequencing have dramatically facilitated the identification of novel human genes associated with rare and common diseases [1]. However novel methods are needed to identify high-quality variations among all the ones identified in a single experiment. The most successful approach to identify disease-causing mutations consi...
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