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

Law, Sandra Day O'Connor College of (LAW)

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

6 Scopus citations

Original language	English (US)
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

ASJC Scopus subject areas

Genetics(clinical)

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10.1016/j.gim.2023.100801

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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

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

@article{3ef9bba076b7482dbebc0dd0e0649a1e,

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 (US)",

volume = "25",

journal = "Genetics in Medicine",

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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

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DO - 10.1016/j.gim.2023.100801

M3 - Editorial

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SN - 1098-3600

VL - 25

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 5

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Practical considerations for reinterpretation of individual genetic variants

ASJC Scopus subject areas

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