Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology.
The genesis of whole exome sequencing as a powerful tool for detailing the protein coding sequence of the human genome was conceptualized based on the availability of next-generation sequencing technology and knowledge of the human reference genome. The field of pediatric nephrology enriched with mo...
| Published in: | Pediatric Nephrology Vol. 33; no. 5; pp. 745 - 762 |
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| Main Authors: | , |
| Format: | review tables/charts Journal Article |
| Published: |
Springer Nature
May2018
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| Online Access: | View this record in EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=128598014&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 128598014 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 0931041X EF1 jtl: Pediatric Nephrology issn: 0931041X maglogo: N pubinfo: dt: May2018 vid: 33 iid: 5 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 128598014 128598014 128598014 10.1007/s00467-017-3698-0 128598014 ppf: 745 ppct: 17 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology. aug: au: Gulati, Ashima Somlo, Stefan affil: Division of Nephrology, Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA sug: subj: Nephrology Proteins Physiology Pediatrics Child Genome Human Oligonucleotide Array Sequence Analysis Phenotype Kidney Diseases Familial and Genetic Genetics Genetics, Medical Child: 6-12 years ab: The genesis of whole exome sequencing as a powerful tool for detailing the protein coding sequence of the human genome was conceptualized based on the availability of next-generation sequencing technology and knowledge of the human reference genome. The field of pediatric nephrology enriched with molecularly unsolved phenotypes is allowing the clinical and research application of whole exome sequencing to enable novel gene discovery and provide amendment of phenotypic misclassification. Recent studies in the field have informed us that newer high-throughput sequencing techniques are likely to be of high yield when applied in conjunction with conventional genomic approaches such as linkage analysis and other strategies used to focus subsequent analysis. They have also emphasized the need for the validation of novel genetic findings in large collaborative cohorts and the production of robust corroborative biological data. The well-structured application of comprehensive genomic testing in clinical and research arenas will hopefully continue to advance patient care and precision medicine, but does call for attention to be paid to its integrated challenges. pubtype: Academic Journal doctype: review tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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