Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing

Sanchis-Juan A, Mostovoy Y, Stenton SL, Ganesh VS, Weisburd B, Yenkin A, Kurtas NE, Zhao X, Shin E, Boone PM, Su H, Lee AS, Yadav R, Allan K, Argilli E, Austin-Tse C, Barry BJ, Baxter S, Beggs AH, Bell KM, Blankenmeister B, Bönnemann CG, Brownstein CA, Bujakowska KM, Carbonell E, Cooper ST, Covill LE, DiTroia S, Donkervoort S, Engle EC, Gallacher L, Genetti CA, Gleeson JG, Guan B, Hall S, Hildebrandt F, Hufnagel RB, Jurgens JA, Khorgade A, Lemire G, Liau E, Ma J, Madden JA, Mangilog B, McNulty BM, Messaoud O, Negi S, O'Heir E, O'Leary MC, Osei-Owusu I, Õunap K, Pais L, Pajusalu S, Pham A, Pierce EA, Pierce-Hoffman E, Ravenscroft G, Roscioli T, Sankaran VG, Serrano J, Sherr EH, Shril S, Singer-Berk M, Snow H, Straub V, Tai D, Tan TY, Töpf A, Ullah E, VanNoy G, Violich I, Walker M, White SM, Wojcik MH, Mitchell E, Al'Khafaji AM, Dodge S, Garimella K, Lennon NJ, Gabriel SB, Miga KH, Paten B, Rehm H, O'Donnell-Luria A, Brand H, Talkowski ME.

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DOI: 10.64898/2026.06.22.26356238
Published: 2026-06-24
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Cite this work

BibTeX

@article{allodium:10.64898/2026.06.22.26356238,
  title = {Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing},
  author = {Sanchis-Juan A and  Mostovoy Y and  Stenton SL and  Ganesh VS and  Weisburd B and  Yenkin A and  Kurtas NE and  Zhao X and  Shin E and  Boone PM and  Su H and  Lee AS and  Yadav R and  Allan K and  Argilli E and  Austin-Tse C and  Barry BJ and  Baxter S and  Beggs AH and  Bell KM and  Blankenmeister B and  Bönnemann CG and  Brownstein CA and  Bujakowska KM and  Carbonell E and  Cooper ST and  Covill LE and  DiTroia S and  Donkervoort S and  Engle EC and  Gallacher L and  Genetti CA and  Gleeson JG and  Guan B and  Hall S and  Hildebrandt F and  Hufnagel RB and  Jurgens JA and  Khorgade A and  Lemire G and  Liau E and  Ma J and  Madden JA and  Mangilog B and  McNulty BM and  Messaoud O and  Negi S and  O'Heir E and  O'Leary MC and  Osei-Owusu I and  Õunap K and  Pais L and  Pajusalu S and  Pham A and  Pierce EA and  Pierce-Hoffman E and  Ravenscroft G and  Roscioli T and  Sankaran VG and  Serrano J and  Sherr EH and  Shril S and  Singer-Berk M and  Snow H and  Straub V and  Tai D and  Tan TY and  Töpf A and  Ullah E and  VanNoy G and  Violich I and  Walker M and  White SM and  Wojcik MH and  Mitchell E and  Al'Khafaji AM and  Dodge S and  Garimella K and  Lennon NJ and  Gabriel SB and  Miga KH and  Paten B and  Rehm H and  O'Donnell-Luria A and  Brand H and  Talkowski ME.},
  year = {2026},
  doi = {10.64898/2026.06.22.26356238},
  url = {https://doi.org/10.64898/2026.06.22.26356238}
}

RIS

TY  - JOUR
TI  - Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing
AU  - Sanchis-Juan A
AU  -  Mostovoy Y
AU  -  Stenton SL
AU  -  Ganesh VS
AU  -  Weisburd B
AU  -  Yenkin A
AU  -  Kurtas NE
AU  -  Zhao X
AU  -  Shin E
AU  -  Boone PM
AU  -  Su H
AU  -  Lee AS
AU  -  Yadav R
AU  -  Allan K
AU  -  Argilli E
AU  -  Austin-Tse C
AU  -  Barry BJ
AU  -  Baxter S
AU  -  Beggs AH
AU  -  Bell KM
AU  -  Blankenmeister B
AU  -  Bönnemann CG
AU  -  Brownstein CA
AU  -  Bujakowska KM
AU  -  Carbonell E
AU  -  Cooper ST
AU  -  Covill LE
AU  -  DiTroia S
AU  -  Donkervoort S
AU  -  Engle EC
AU  -  Gallacher L
AU  -  Genetti CA
AU  -  Gleeson JG
AU  -  Guan B
AU  -  Hall S
AU  -  Hildebrandt F
AU  -  Hufnagel RB
AU  -  Jurgens JA
AU  -  Khorgade A
AU  -  Lemire G
AU  -  Liau E
AU  -  Ma J
AU  -  Madden JA
AU  -  Mangilog B
AU  -  McNulty BM
AU  -  Messaoud O
AU  -  Negi S
AU  -  O'Heir E
AU  -  O'Leary MC
AU  -  Osei-Owusu I
AU  -  Õunap K
AU  -  Pais L
AU  -  Pajusalu S
AU  -  Pham A
AU  -  Pierce EA
AU  -  Pierce-Hoffman E
AU  -  Ravenscroft G
AU  -  Roscioli T
AU  -  Sankaran VG
AU  -  Serrano J
AU  -  Sherr EH
AU  -  Shril S
AU  -  Singer-Berk M
AU  -  Snow H
AU  -  Straub V
AU  -  Tai D
AU  -  Tan TY
AU  -  Töpf A
AU  -  Ullah E
AU  -  VanNoy G
AU  -  Violich I
AU  -  Walker M
AU  -  White SM
AU  -  Wojcik MH
AU  -  Mitchell E
AU  -  Al'Khafaji AM
AU  -  Dodge S
AU  -  Garimella K
AU  -  Lennon NJ
AU  -  Gabriel SB
AU  -  Miga KH
AU  -  Paten B
AU  -  Rehm H
AU  -  O'Donnell-Luria A
AU  -  Brand H
AU  -  Talkowski ME.
PY  - 2026
DO  - 10.64898/2026.06.22.26356238
UR  - https://doi.org/10.64898/2026.06.22.26356238
ER  -

APA

A, S., Y, M., SL, S., VS, G., B, W., A, Y., NE, K., X, Z., E, S., PM, B., H, S., AS, L., R, Y., K, A., E, A., C, A., BJ, B., S, B., AH, B., KM, B., B, B., CG, B., CA, B., KM, B., E, C., ST, C., LE, C., S, D., S, D., EC, E., L, G., CA, G., JG, G., B, G., S, H., F, H., RB, H., JA, J., A, K., G, L., E, L., J, M., JA, M., B, M., BM, M., O, M., S, N., E, O., MC, O., I, O., K, Õ., L, P., S, P., A, P., EA, P., E, P., G, R., T, R., VG, S., J, S., EH, S., S, S., M, S., H, S., V, S., D, T., TY, T., A, T., E, U., G, V., I, V., M, W., SM, W., MH, W., E, M., AM, A., S, D., K, G., NJ, L., SB, G., KH, M., B, P., H, R., A, O., H, B., & ME., T. (2026). Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing. https://doi.org/10.64898/2026.06.22.26356238

Source records

europe-pmc · retrieved 2026-09-25T06:47:18.756Z