Practical considerations for reinterpretation of individual genetic variants

Paul S. Appelbaum; Sara M. Berger; Elly Brokamp; Henry Shelton Brown; Wylie Burke; Ellen Wright Clayton; Barbara J. Evans; Rizwan Hamid; Gary E. Marchant; Donna M. Martin; Bridget C. O'Connor; José A. Pagán; Erik Parens; Jessica L. Roberts; John Rowe; John Schneider; Karolynn Siegel; David L. Veenstra; Wendy K. Chung

doi:10.1016/j.gim.2023.100801

Practical considerations for reinterpretation of individual genetic variants

Paul S. Appelbaum
, Sara M. Berger
, Elly Brokamp
, Henry Shelton Brown
, Wylie Burke
, Ellen Wright Clayton
, Barbara J. Evans
, Rizwan Hamid
, Gary E. Marchant
, Donna M. Martin
, Bridget C. O'Connor
, José A. Pagán
, Erik Parens
, Jessica L. Roberts
, John Rowe
, John Schneider
, Karolynn Siegel
, David L. Veenstra
, Wendy K. Chung

Research output: Contribution to journal › Editorial

22 Scopus citations

Original language	English
Article number	100801
Journal	Genetics in Medicine
Volume	25
Issue number	5
DOIs	https://doi.org/10.1016/j.gim.2023.100801
State	Published - May 2023
Externally published	Yes

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10.1016/j.gim.2023.100801

Cite this

Appelbaum, P. S., Berger, S. M., Brokamp, E., Brown, H. S., Burke, W., Clayton, E. W., Evans, B. J., Hamid, R., Marchant, G. E., Martin, D. M., O'Connor, B. C., Pagán, J. A., Parens, E., Roberts, J. L., Rowe, J., Schneider, J., Siegel, K., Veenstra, D. L., & Chung, W. K. (2023). Practical considerations for reinterpretation of individual genetic variants. Genetics in Medicine, 25(5), Article 100801. https://doi.org/10.1016/j.gim.2023.100801

@article{32fafa81ec444c55b10cce32f28c7c43,

title = "Practical considerations for reinterpretation of individual genetic variants",

author = "Appelbaum, \{Paul S.\} and Berger, \{Sara M.\} and Elly Brokamp and Brown, \{Henry Shelton\} and Wylie Burke and Clayton, \{Ellen Wright\} and Evans, \{Barbara J.\} and Rizwan Hamid and Marchant, \{Gary E.\} and Martin, \{Donna M.\} and O'Connor, \{Bridget C.\} and Pag{\'a}n, \{Jos{\'e} A.\} and Erik Parens and Roberts, \{Jessica L.\} and John Rowe and John Schneider and Karolynn Siegel and Veenstra, \{David L.\} and Chung, \{Wendy K.\}",

note = "Funding Information: This work was supported by a grant (R01HG010365) from the National Human Genome Research Institute . Funding Information: We acknowledge the contributions of the members of the expert advisory panel of the funding grant: Samantha Baxter, Natasha Bonhomme, Elizabeth Chao, Katherine Crew, Debra Esser, Mathew Maurer, Lisa Salberg, Michael Watson, and Consuelo Wilkins. ",

year = "2023",

month = may,

doi = "10.1016/j.gim.2023.100801",

language = "English",

volume = "25",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Elsevier B.V.",

number = "5",

}

Appelbaum, PS, Berger, SM, Brokamp, E, Brown, HS, Burke, W, Clayton, EW, Evans, BJ, Hamid, R, Marchant, GE, Martin, DM, O'Connor, BC, Pagán, JA, Parens, E, Roberts, JL, Rowe, J, Schneider, J, Siegel, K, Veenstra, DL & Chung, WK 2023, 'Practical considerations for reinterpretation of individual genetic variants', Genetics in Medicine, vol. 25, no. 5, 100801. https://doi.org/10.1016/j.gim.2023.100801

TY - JOUR

T1 - Practical considerations for reinterpretation of individual genetic variants

AU - Appelbaum, Paul S.

AU - Berger, Sara M.

AU - Brokamp, Elly

AU - Brown, Henry Shelton

AU - Burke, Wylie

AU - Clayton, Ellen Wright

AU - Evans, Barbara J.

AU - Hamid, Rizwan

AU - Marchant, Gary E.

AU - Martin, Donna M.

AU - O'Connor, Bridget C.

AU - Pagán, José A.

AU - Parens, Erik

AU - Roberts, Jessica L.

AU - Rowe, John

AU - Schneider, John

AU - Siegel, Karolynn

AU - Veenstra, David L.

AU - Chung, Wendy K.

N1 - Funding Information: This work was supported by a grant (R01HG010365) from the National Human Genome Research Institute . Funding Information: We acknowledge the contributions of the members of the expert advisory panel of the funding grant: Samantha Baxter, Natasha Bonhomme, Elizabeth Chao, Katherine Crew, Debra Esser, Mathew Maurer, Lisa Salberg, Michael Watson, and Consuelo Wilkins.

PY - 2023/5

Y1 - 2023/5

UR - https://www.scopus.com/pages/publications/85149802137

U2 - 10.1016/j.gim.2023.100801

DO - 10.1016/j.gim.2023.100801

M3 - Editorial

C2 - 36748709

AN - SCOPUS:85149802137

SN - 1098-3600

VL - 25

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 5

M1 - 100801

ER -