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Genetic Alterations in Atypical Cerebral Palsy Identified Through Chromosomal Microarray and Exome Sequencing. [PDF]
Int J Mol SciHan JY +4 more
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Exome sequencing: how to understand it [PDF]
Practical Neurology, 2013 ### Glossary of terms Calling . The process of determining the DNA bases or regions in sequenced subjects that differ from the reference exome or genome. Coverage . The number of times a single nucleotide in a sequence has been sequenced or read. Exons. The protein coding regions. Exome .
M J Keogh +3 more
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Dermatitis, 2013
Our goal is to highlight annually a methodology of significance to the journal's domains, either because it has been used clinically or researchwise for our fields of interest or because it holds promise as a tool in diagnosing, treating, or investigating corresponding diseases.We hope another strength of this new section is simplicity of language that
and Anthony A. Nuara, Donald A. Glass
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Our goal is to highlight annually a methodology of significance to the journal's domains, either because it has been used clinically or researchwise for our fields of interest or because it holds promise as a tool in diagnosing, treating, or investigating corresponding diseases.We hope another strength of this new section is simplicity of language that
and Anthony A. Nuara, Donald A. Glass
openaire +3 more sources
Exome sequencing and its application
Hereditas (Beijing), 2011In recent years, researchers have identified a large number of complex diseases/traits-associated genetic variants by performing genome-wide association studies (GWAS), which may provide important clues on understanding the mechanisms of related diseases.
Min Li, Xue-Jun Zhang, Xin Zhang
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Diagnostic Clinical Genome and Exome Sequencing [PDF]
New England Journal of Medicine, 2014 n engl j med 371;12 nejm.org september 18, 2014 1169 not. This suggests that differences with previous studies may be explained by residual confounding in those studies. Our study addresses only one piece of the complex risk–benefit equation of antidepressant use in pregnancy, during which other risks associated with antidepressant use have been well ...
Frank L.J. Visseren +2 more
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Exome Sequencing by Targeted Enrichment
Current Protocols in Molecular Biology, 2013AbstractThis unit describes methods for targeted enrichment of the exon‐coding portions of the genome using Agilent SureSelect Human All Exon 50 Mb and Roche Nimblegen SeqCap EZ Exome platforms. Each platform targets and enriches a large overlapping portion of the greater human exome.
Michael J. Clark +2 more
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Fetal Exome Sequencing on the Horizon
Journal of Obstetrics and Gynaecology Canada, 2019Prenatal whole exome sequencing has recently been introduced. It is evolving and although not currently ready for everyday clinical practice, it will likely become part of the diagnostic arsenal available to clinicians caring for couples carrying a pregnancy for which fetal anomalies have been identified.
Karen Wou +4 more
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Exome Sequencing Data Analysis
2019Whole exome sequencing, owing to its low cost and computational burden, has become the standard for causal gene detection in disease and treatment management. This article provides a brief overview of exome data generation and discusses the computational pipeline involved in utilizing exome sequencing data to identify specific variants, as well as its ...
Sathyanarayanan, Anita +3 more
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Autozygosity Mapping with Exome Sequence Data
Human Mutation, 2012Autozygosity mapping is a powerful method for the identification of recessively inherited disease genes using small inbred families. Typically, microarray SNP genotype data are first used to identify autozygous regions as extended runs of homozygous genotypes.
Carr, Ian M. +9 more
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