A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets

Alexandra Butters; Kate Thomson; Franki Harrington; Natasha Henden; Karen Mcguire; Alicia B. Byrne; Samantha Bryen; Kathryn A. Mcgurk; Megan Leask; Michael J. Ackerman; John Atherton; Johan M. Bos; Colleen Caleshu; Sharlene M. Day; Kyla Dunn; Ian Hayes; Jimmy Juang; Julie Mcgaughran; Natalie Nowak; Victoria N. Parikh; Anne Ronan; Christopher Semsarian; Jil C. Tardiff; Marianne Tiemensma; Tony R. Merriman; James S. Ware; Jonathan R. Skinner; Daniel G. Macarthur; Owen M. Siggs; Richard D. Bagnall; Jodie Ingles

doi:10.1093/eurheartj/ehaf001

A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets

Alexandra Butters
, Kate Thomson
, Franki Harrington
, Natasha Henden
, Karen Mcguire
, Alicia B. Byrne
, Samantha Bryen
, Kathryn A. Mcgurk
, Megan Leask
, Michael J. Ackerman
, John Atherton
, Johan M. Bos
, Colleen Caleshu
, Sharlene M. Day
, Kyla Dunn
, Ian Hayes
, Jimmy Juang
, Julie Mcgaughran
, Natalie Nowak
, Victoria N. Parikh

Anne Ronan, Christopher Semsarian, Jil C. Tardiff, Marianne Tiemensma, Tony R. Merriman, James S. Ware, Jonathan R. Skinner, Daniel G. Macarthur, Owen M. Siggs, Richard D. Bagnall, Jodie Ingles

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Original language	English (US)
Pages (from-to)	1446-1449
Number of pages	4
Journal	European Heart Journal
Volume	46
Issue number	15
DOIs	https://doi.org/10.1093/eurheartj/ehaf001
State	Published - Apr 14 2025
Externally published	Yes

Keywords

Cardiomyopathy
Genomics
Population databases

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

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10.1093/eurheartj/ehaf001

Cite this

Butters, A., Thomson, K., Harrington, F., Henden, N., Mcguire, K., Byrne, A. B., Bryen, S., Mcgurk, K. A., Leask, M., Ackerman, M. J., Atherton, J., Bos, J. M., Caleshu, C., Day, S. M., Dunn, K., Hayes, I., Juang, J., Mcgaughran, J., Nowak, N., ... Ingles, J. (2025). A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets. European Heart Journal, 46(15), 1446-1449. https://doi.org/10.1093/eurheartj/ehaf001

Butters, A, Thomson, K, Harrington, F, Henden, N, Mcguire, K, Byrne, AB, Bryen, S, Mcgurk, KA, Leask, M, Ackerman, MJ, Atherton, J, Bos, JM, Caleshu, C, Day, SM, Dunn, K, Hayes, I, Juang, J, Mcgaughran, J, Nowak, N, Parikh, VN, Ronan, A, Semsarian, C, Tardiff, JC, Tiemensma, M, Merriman, TR, Ware, JS, Skinner, JR, Macarthur, DG, Siggs, OM, Bagnall, RD & Ingles, J 2025, 'A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets', European Heart Journal, vol. 46, no. 15, pp. 1446-1449. https://doi.org/10.1093/eurheartj/ehaf001

@article{cf677959542b4a41b0cfd09dab9303f6,

title = "A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets",

keywords = "Cardiomyopathy, Genomics, Population databases",

author = "Alexandra Butters and Kate Thomson and Franki Harrington and Natasha Henden and Karen Mcguire and Byrne, \{Alicia B.\} and Samantha Bryen and Mcgurk, \{Kathryn A.\} and Megan Leask and Ackerman, \{Michael J.\} and John Atherton and Bos, \{Johan M.\} and Colleen Caleshu and Day, \{Sharlene M.\} and Kyla Dunn and Ian Hayes and Jimmy Juang and Julie Mcgaughran and Natalie Nowak and Parikh, \{Victoria N.\} and Anne Ronan and Christopher Semsarian and Tardiff, \{Jil C.\} and Marianne Tiemensma and Merriman, \{Tony R.\} and Ware, \{James S.\} and Skinner, \{Jonathan R.\} and Macarthur, \{Daniel G.\} and Siggs, \{Owen M.\} and Bagnall, \{Richard D.\} and Jodie Ingles",

year = "2025",

month = apr,

day = "14",

doi = "10.1093/eurheartj/ehaf001",

language = "English (US)",

volume = "46",

pages = "1446--1449",

journal = "European Heart Journal",

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T1 - A rare splice-site variant in TNNT2

T2 - the need for ancestral diversity in genomic reference data sets

AU - Butters, Alexandra

AU - Thomson, Kate

AU - Harrington, Franki

AU - Henden, Natasha

AU - Mcguire, Karen

AU - Byrne, Alicia B.

AU - Bryen, Samantha

AU - Mcgurk, Kathryn A.

AU - Leask, Megan

AU - Ackerman, Michael J.

AU - Atherton, John

AU - Bos, Johan M.

AU - Caleshu, Colleen

AU - Day, Sharlene M.

AU - Dunn, Kyla

AU - Hayes, Ian

AU - Juang, Jimmy

AU - Mcgaughran, Julie

AU - Nowak, Natalie

AU - Parikh, Victoria N.

AU - Ronan, Anne

AU - Semsarian, Christopher

AU - Tardiff, Jil C.

AU - Tiemensma, Marianne

AU - Merriman, Tony R.

AU - Ware, James S.

AU - Skinner, Jonathan R.

AU - Macarthur, Daniel G.

AU - Siggs, Owen M.

AU - Bagnall, Richard D.

AU - Ingles, Jodie

PY - 2025/4/14

Y1 - 2025/4/14

KW - Cardiomyopathy

KW - Genomics

KW - Population databases

UR - https://www.scopus.com/pages/publications/105002766151

UR - https://www.scopus.com/pages/publications/105002766151#tab=citedBy

U2 - 10.1093/eurheartj/ehaf001

DO - 10.1093/eurheartj/ehaf001

M3 - Article

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AN - SCOPUS:105002766151

SN - 0195-668X

VL - 46

SP - 1446

EP - 1449

JO - European Heart Journal

JF - European Heart Journal

IS - 15

ER -

A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets

Keywords

ASJC Scopus subject areas

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