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Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group. / Glotov, Andrey S.; Kazakov, Sergey V.; Zhukova, Elena A.; Alexandrov, Anton V.; Glotov, Oleg S.; Pakin, Vladimir S.; Danilova, Maria M.; Poliakova, Irina V.; Niyazova, Svetlana S.; Chakova, Natalia N.; Komissarova, Svetlana M.; Kurnikova, Elena A.; Sarana, Andrey M.

в: Clinica Chimica Acta, Том 446, 2015, стр. 132–140.

Результаты исследований: Научные публикации в периодических изданиях › статья

Harvard

Glotov, AS, Kazakov, SV, Zhukova, EA, Alexandrov, AV, Glotov, OS, Pakin, VS, Danilova, MM, Poliakova, IV, Niyazova, SS, Chakova, NN, Komissarova, SM, Kurnikova, EA & Sarana, AM 2015, 'Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group', Clinica Chimica Acta, Том. 446, стр. 132–140. https://doi.org/10.1016/j.cca.2015.04.014

APA

Glotov, A. S., Kazakov, S. V., Zhukova, E. A., Alexandrov, A. V., Glotov, O. S., Pakin, V. S., Danilova, M. M., Poliakova, I. V., Niyazova, S. S., Chakova, N. N., Komissarova, S. M., Kurnikova, E. A., & Sarana, A. M. (2015). Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group. Clinica Chimica Acta, 446, 132–140. https://doi.org/10.1016/j.cca.2015.04.014

Vancouver

Glotov AS, Kazakov SV, Zhukova EA, Alexandrov AV, Glotov OS, Pakin VS и пр. Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group. Clinica Chimica Acta. 2015;446:132–140. https://doi.org/10.1016/j.cca.2015.04.014

Author

Glotov, Andrey S. ; Kazakov, Sergey V. ; Zhukova, Elena A. ; Alexandrov, Anton V. ; Glotov, Oleg S. ; Pakin, Vladimir S. ; Danilova, Maria M. ; Poliakova, Irina V. ; Niyazova, Svetlana S. ; Chakova, Natalia N. ; Komissarova, Svetlana M. ; Kurnikova, Elena A. ; Sarana, Andrey M. / Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group. в: Clinica Chimica Acta. 2015 ; Том 446. стр. 132–140.

BibTeX

@article{baf6817dd50b47bfb535d15c5fb82fd2,
title = "Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group",
abstract = "Background: Hypertrophic cardiomyopathy is a common genetic cardiac disease. Prevention and early diagnosis of this disease are very important. Because of the large number of causative genes and the high rate of mutations involved in the pathogenesis of this disease, traditional methods of early diagnosis are ineffective. Methods: We developed a custom AmpliSeq panel for NGS sequencing of the coding sequences of ACTC1, MYBPC3, MYH7, MYL2, MYL3, TNNI3, TNNT2, TPM1, and CASQ2. A genetic analysis of student cohorts (with and without cardiomyopathy risk in their medical histories) and patients with cardiomyopathies was performed. For the statistical and bioinformatics analysis, Polyphen2, SIFT, SnpSift and PLINK software were used. To select genetic markers in the patients with cardiomyopathy and in the students of the high risk group, four additive models were applied. Results: Our AmpliSeq custom panel allowed us to efficiently explore targeted sequences. Based on the score analysis, we detected three substitut",
keywords = "mutations, SNP, cardiomyopathy, NGS, group risk, students.",
author = "Glotov, {Andrey S.} and Kazakov, {Sergey V.} and Zhukova, {Elena A.} and Alexandrov, {Anton V.} and Glotov, {Oleg S.} and Pakin, {Vladimir S.} and Danilova, {Maria M.} and Poliakova, {Irina V.} and Niyazova, {Svetlana S.} and Chakova, {Natalia N.} and Komissarova, {Svetlana M.} and Kurnikova, {Elena A.} and Sarana, {Andrey M.}",
year = "2015",
doi = "10.1016/j.cca.2015.04.014",
language = "English",
volume = "446",
pages = "132–140",
journal = "Clinica Chimica Acta",
issn = "0009-8981",
publisher = "Elsevier",

}

RIS

TY - JOUR

T1 - Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group

AU - Glotov, Andrey S.

AU - Kazakov, Sergey V.

AU - Zhukova, Elena A.

AU - Alexandrov, Anton V.

AU - Glotov, Oleg S.

AU - Pakin, Vladimir S.

AU - Danilova, Maria M.

AU - Poliakova, Irina V.

AU - Niyazova, Svetlana S.

AU - Chakova, Natalia N.

AU - Komissarova, Svetlana M.

AU - Kurnikova, Elena A.

AU - Sarana, Andrey M.

PY - 2015

Y1 - 2015

N2 - Background: Hypertrophic cardiomyopathy is a common genetic cardiac disease. Prevention and early diagnosis of this disease are very important. Because of the large number of causative genes and the high rate of mutations involved in the pathogenesis of this disease, traditional methods of early diagnosis are ineffective. Methods: We developed a custom AmpliSeq panel for NGS sequencing of the coding sequences of ACTC1, MYBPC3, MYH7, MYL2, MYL3, TNNI3, TNNT2, TPM1, and CASQ2. A genetic analysis of student cohorts (with and without cardiomyopathy risk in their medical histories) and patients with cardiomyopathies was performed. For the statistical and bioinformatics analysis, Polyphen2, SIFT, SnpSift and PLINK software were used. To select genetic markers in the patients with cardiomyopathy and in the students of the high risk group, four additive models were applied. Results: Our AmpliSeq custom panel allowed us to efficiently explore targeted sequences. Based on the score analysis, we detected three substitut

AB - Background: Hypertrophic cardiomyopathy is a common genetic cardiac disease. Prevention and early diagnosis of this disease are very important. Because of the large number of causative genes and the high rate of mutations involved in the pathogenesis of this disease, traditional methods of early diagnosis are ineffective. Methods: We developed a custom AmpliSeq panel for NGS sequencing of the coding sequences of ACTC1, MYBPC3, MYH7, MYL2, MYL3, TNNI3, TNNT2, TPM1, and CASQ2. A genetic analysis of student cohorts (with and without cardiomyopathy risk in their medical histories) and patients with cardiomyopathies was performed. For the statistical and bioinformatics analysis, Polyphen2, SIFT, SnpSift and PLINK software were used. To select genetic markers in the patients with cardiomyopathy and in the students of the high risk group, four additive models were applied. Results: Our AmpliSeq custom panel allowed us to efficiently explore targeted sequences. Based on the score analysis, we detected three substitut

KW - mutations

KW - SNP

KW - cardiomyopathy

KW - NGS

KW - group risk

KW - students.

U2 - 10.1016/j.cca.2015.04.014

DO - 10.1016/j.cca.2015.04.014

M3 - Article

VL - 446

SP - 132

EP - 140

JO - Clinica Chimica Acta

JF - Clinica Chimica Acta

SN - 0009-8981

ER -

ID: 5757419