The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

Pagnamenta AT., Yu J., Walker S., Noble AJ., Lord J., Dutta P., Hashim M., Camps C., Green H., Devaiah S., Nashef L., Parr J., Fratter C., Ibnouf Hussein R., Lindsay SJ., Lalloo F., Banos-Pinero B., Evans D., Mallin L., Waite A., Evans J., Newman A., Allen Z., Perez-Becerril C., Ryan G., Hart R., Taylor J., Bedenham T., Clement E., Blair E., Hay E., Forzano F., Higgs J., Canham N., Majumdar A., McEntagart M., Lahiri N., Stewart H., Smithson S., Calpena E., Jackson A., Banka S., Titheradge H., McGowan R., Rankin J., Shaw-Smith C., Evans DG., Burghel GJ., Smith MJ., Anderson E., Madhu R., Firth H., Ellard S., Brennan P., Anderson C., Taupin D., Rogers MT., Cook JA., Durkie M., East JE., Fowler D., Wilson L., Igbokwe R., Gardham A., Tomlinson I., Baralle D., Uhlig HH., Taylor JC.

DOI

10.1016/j.ajhg.2024.04.018

Type

Journal article

Publisher

Elsevier BV

Publication Date

2024-06-01T00:00:00+00:00

Volume

111

Pages

1140 - 1164

Total pages

24

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