Distinguishing pathogenic mutations from background genetic noise in cardiology: The use of large genome databases for genetic interpretation

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Distinguishing pathogenic mutations from background genetic noise in cardiology : The use of large genome databases for genetic interpretation. / Ghouse, J; Skov, M W; Bigseth, R S; Ahlberg, G; Kanters, J K; Olesen, M S.

In: Clinical Genetics, Vol. 93, No. 3, 03.2018, p. 459-466.

Research output: Contribution to journalReviewResearchpeer-review

Harvard

Ghouse, J, Skov, MW, Bigseth, RS, Ahlberg, G, Kanters, JK & Olesen, MS 2018, 'Distinguishing pathogenic mutations from background genetic noise in cardiology: The use of large genome databases for genetic interpretation', Clinical Genetics, vol. 93, no. 3, pp. 459-466. https://doi.org/10.1111/cge.13066

APA

Ghouse, J., Skov, M. W., Bigseth, R. S., Ahlberg, G., Kanters, J. K., & Olesen, M. S. (2018). Distinguishing pathogenic mutations from background genetic noise in cardiology: The use of large genome databases for genetic interpretation. Clinical Genetics, 93(3), 459-466. https://doi.org/10.1111/cge.13066

Vancouver

Ghouse J, Skov MW, Bigseth RS, Ahlberg G, Kanters JK, Olesen MS. Distinguishing pathogenic mutations from background genetic noise in cardiology: The use of large genome databases for genetic interpretation. Clinical Genetics. 2018 Mar;93(3):459-466. https://doi.org/10.1111/cge.13066

Author

Ghouse, J ; Skov, M W ; Bigseth, R S ; Ahlberg, G ; Kanters, J K ; Olesen, M S. / Distinguishing pathogenic mutations from background genetic noise in cardiology : The use of large genome databases for genetic interpretation. In: Clinical Genetics. 2018 ; Vol. 93, No. 3. pp. 459-466.

Bibtex

@article{730b304251f24e55a11c7fcc834a18a4,
title = "Distinguishing pathogenic mutations from background genetic noise in cardiology: The use of large genome databases for genetic interpretation",
abstract = "Advances in clinical genetic testing have led to increased insight into the human genome, including how challenging it is to interpret rare genetic variation. In some cases, the ability to detect genetic mutations exceeds the ability to understand their clinical impact, limiting the advantage of these technologies. Obstacles in genomic medicine are many and include: understanding the level of certainty/uncertainty behind pathogenicity determination, the numerous different variant interpretation-guidelines used by clinical laboratories, delivering the certain or uncertain result to the patient, helping patients evaluate medical decisions in light of uncertainty regarding the consequence of the findings. Through publication of large publicly available exome/genome databases, researchers and physicians are now able to highlight dubious variants previously associated with different cardiac traits. Also, continuous efforts through data sharing, international collaborative efforts to develop disease-gene-specific guidelines, and computational analyses using large data, will indubitably assist in better variant interpretation and classification. This article discusses the current, and quickly changing, state of variant interpretation resources within cardiovascular genetic research, e.g., publicly available databases and ways of how cardiovascular genetic counselors and geneticists can aid in improving variant interpretation in cardiology.",
keywords = "ClinGen, false-positive, genetics, inherited cardiac disease, long QT syndrome, online databases",
author = "J Ghouse and Skov, {M W} and Bigseth, {R S} and G Ahlberg and Kanters, {J K} and Olesen, {M S}",
note = "{\circledC} 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.",
year = "2018",
month = "3",
doi = "10.1111/cge.13066",
language = "English",
volume = "93",
pages = "459--466",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "3",

}

RIS

TY - JOUR

T1 - Distinguishing pathogenic mutations from background genetic noise in cardiology

T2 - The use of large genome databases for genetic interpretation

AU - Ghouse, J

AU - Skov, M W

AU - Bigseth, R S

AU - Ahlberg, G

AU - Kanters, J K

AU - Olesen, M S

N1 - © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

PY - 2018/3

Y1 - 2018/3

N2 - Advances in clinical genetic testing have led to increased insight into the human genome, including how challenging it is to interpret rare genetic variation. In some cases, the ability to detect genetic mutations exceeds the ability to understand their clinical impact, limiting the advantage of these technologies. Obstacles in genomic medicine are many and include: understanding the level of certainty/uncertainty behind pathogenicity determination, the numerous different variant interpretation-guidelines used by clinical laboratories, delivering the certain or uncertain result to the patient, helping patients evaluate medical decisions in light of uncertainty regarding the consequence of the findings. Through publication of large publicly available exome/genome databases, researchers and physicians are now able to highlight dubious variants previously associated with different cardiac traits. Also, continuous efforts through data sharing, international collaborative efforts to develop disease-gene-specific guidelines, and computational analyses using large data, will indubitably assist in better variant interpretation and classification. This article discusses the current, and quickly changing, state of variant interpretation resources within cardiovascular genetic research, e.g., publicly available databases and ways of how cardiovascular genetic counselors and geneticists can aid in improving variant interpretation in cardiology.

AB - Advances in clinical genetic testing have led to increased insight into the human genome, including how challenging it is to interpret rare genetic variation. In some cases, the ability to detect genetic mutations exceeds the ability to understand their clinical impact, limiting the advantage of these technologies. Obstacles in genomic medicine are many and include: understanding the level of certainty/uncertainty behind pathogenicity determination, the numerous different variant interpretation-guidelines used by clinical laboratories, delivering the certain or uncertain result to the patient, helping patients evaluate medical decisions in light of uncertainty regarding the consequence of the findings. Through publication of large publicly available exome/genome databases, researchers and physicians are now able to highlight dubious variants previously associated with different cardiac traits. Also, continuous efforts through data sharing, international collaborative efforts to develop disease-gene-specific guidelines, and computational analyses using large data, will indubitably assist in better variant interpretation and classification. This article discusses the current, and quickly changing, state of variant interpretation resources within cardiovascular genetic research, e.g., publicly available databases and ways of how cardiovascular genetic counselors and geneticists can aid in improving variant interpretation in cardiology.

KW - ClinGen

KW - false-positive

KW - genetics

KW - inherited cardiac disease

KW - long QT syndrome

KW - online databases

UR - http://www.scopus.com/inward/record.url?scp=85030032967&partnerID=8YFLogxK

U2 - 10.1111/cge.13066

DO - 10.1111/cge.13066

M3 - Review

VL - 93

SP - 459

EP - 466

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 3

ER -

ID: 191389861