SNaPshot Assay in Quantitative Detection of Allelic Nondisjunction in Down Syndrome

Ghosh, Debarati; Gochhait, Sailesh; Banerjee, Disha; Chatterjee, Anindita; Sinha, Swagata; Nandagopal, Krishnadas

doi:10.1089/gtmb.2012.0083

Cited by 2 publications

(3 citation statements)

References 33 publications

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“…We also find genetic variations in GRIK1 have been linked to schizophrenia 31 and down syndrome. 32 Even only examining the top three predicted pharmacogenes, there is evidence in other databases and literature that suggests these should be further examined by the PharmGKB curators for possible annotation.…”

Section: Resultsmentioning

confidence: 99%

Combining Heterogenous Data for Prediction of Disease Related and Pharmacogenes

2013

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Identifying genetic variants that affect drug response or play a role in disease is an important task for clinicians and researchers. Before individual variants can be explored efficiently for effect on drug response or disease relationships, specific candidate genes must be identified. While many methods rank candidate genes through the use of sequence features and network topology, only a few exploit the information contained in the biomedical literature. In this work, we train and test a classifier on known pharmacogenes from PharmGKB and present a classifier that predicts pharmacogenes on a genome-wide scale using only Gene Ontology annotations and simple features mined from the biomedical literature. Performance of F=0.86, AUC=0.860 is achieved. The top 10 predicted genes are analyzed. Additionally, a set of enriched pharmacogenic Gene Ontology concepts is produced.

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Section: Resultsmentioning

confidence: 99%

Combining Heterogenous Data for Prediction of Disease Related and Pharmacogenes

2013

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“…As the equipment and operating costs of the digital PCR and the sequencing assay are high, we developed this molecular technology with rapidity, accuracy, and lower cost for noninvasive prenatal detection of T21. A recent research for detecting allelic non‐disjunction in nuclear families with T21 offspring has shown wide applications in the technology with SNaPshot assay . Otherwise, the method could also be applied to the prenatal assessment of other chromosomal aneuploidies, for example, trisomy 18 and 13, through the mining of the relevant transcripts.…”

Section: Discussionmentioning

confidence: 99%

“…A recent research for detecting allelic non-disjunction in nuclear families with T21 offspring has shown wide applications in the technology with SNaPshot assay. 24 Otherwise, the method could also be applied to the prenatal assessment of other chromosomal aneuploidies, for example, trisomy 18 and 13, through the mining of the relevant transcripts. However, the RNA-SNP ratio strategy is limited to a population subset, the nature of which is dictated by the ethnicity of the studied population (e.g.…”

Section: Discussionmentioning

confidence: 99%