Pangenomes aid accurate detection of large insertions and deletions from targeted sequencing: the case of cardiomyopathies.

Mazzarotto F, Kalay Ö, Arslan E, Cinquina V, Buchan RJ, Bertini V, Cavanagh E, Turgut D, Allouba M, Afify A, Halawa S, Theotokis P, Budak G, Girolami F, Azzu A, Peldova P, Matthews N, Pennell DJ, Bonaventura J, Olivotto I, Pelo E, Colombi M, Macek M, Barton PJR, Aguib Y, Yacoub M, Ritelli M, Gennarelli M, Tetikol HS, Walsh R, Ware JS, Jain A

Open source

DOI
10.1186/s13073-026-01749-0
Published
2026 Aug 26
Container
Genome medicine
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1186/s13073-026-01749-0,
  title = {Pangenomes aid accurate detection of large insertions and deletions from targeted sequencing: the case of cardiomyopathies.},
  author = {Mazzarotto F and Kalay Ö and Arslan E and Cinquina V and Buchan RJ and Bertini V and Cavanagh E and Turgut D and Allouba M and Afify A and Halawa S and Theotokis P and Budak G and Girolami F and Azzu A and Peldova P and Matthews N and Pennell DJ and Bonaventura J and Olivotto I and Pelo E and Colombi M and Macek M and Barton PJR and Aguib Y and Yacoub M and Ritelli M and Gennarelli M and Tetikol HS and Walsh R and Ware JS and Jain A},
  year = {2026},
  journal = {Genome medicine},
  doi = {10.1186/s13073-026-01749-0},
  url = {https://doi.org/10.1186/s13073-026-01749-0}
}

RIS

TY  - JOUR
TI  - Pangenomes aid accurate detection of large insertions and deletions from targeted sequencing: the case of cardiomyopathies.
AU  - Mazzarotto F
AU  - Kalay Ö
AU  - Arslan E
AU  - Cinquina V
AU  - Buchan RJ
AU  - Bertini V
AU  - Cavanagh E
AU  - Turgut D
AU  - Allouba M
AU  - Afify A
AU  - Halawa S
AU  - Theotokis P
AU  - Budak G
AU  - Girolami F
AU  - Azzu A
AU  - Peldova P
AU  - Matthews N
AU  - Pennell DJ
AU  - Bonaventura J
AU  - Olivotto I
AU  - Pelo E
AU  - Colombi M
AU  - Macek M
AU  - Barton PJR
AU  - Aguib Y
AU  - Yacoub M
AU  - Ritelli M
AU  - Gennarelli M
AU  - Tetikol HS
AU  - Walsh R
AU  - Ware JS
AU  - Jain A
PY  - 2026
JO  - Genome medicine
DO  - 10.1186/s13073-026-01749-0
UR  - https://doi.org/10.1186/s13073-026-01749-0
ER  -

APA

F, M., Ö, K., E, A., V, C., RJ, B., V, B., E, C., D, T., M, A., A, A., S, H., P, T., G, B., F, G., A, A., P, P., N, M., DJ, P., J, B., I, O., E, P., M, C., M, M., PJR, B., Y, A., M, Y., M, R., M, G., HS, T., R, W., JS, W., & A, J. (2026). Pangenomes aid accurate detection of large insertions and deletions from targeted sequencing: the case of cardiomyopathies.. Genome medicine. https://doi.org/10.1186/s13073-026-01749-0

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