Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing

Phillip J Whiley; Miguel de la Hoya; Mads Thomassen; Alexandra Becker; Rita Brandão; Inge Sokilde Pedersen; Marco Montagna; Mireia Menéndez; Francisco Quiles; Sara Gutiérrez-Enríquez; Kim De Leeneer; Anna Tenés; Gemma Montalban; Demis Tserpelis; Toshio Yoshimatsu; Carole Tirapo; Michela Raponi; Trinidad Caldes; Ana Blanco; Marta Santamariña; Lucia Guidugli; Gorka Ruiz de Garibay; Ming Wong; Mariella Tancredi; Laura Fachal; Yuan Chun Ding; Torben A Kruse; Vanessa Lattimore; Ava Kwong; Tsun Leung Chan; Mara Colombo; Giovanni De Vecchi; Maria Caligo; Diana Baralle; Conxi Lázaro; Fergus Couch; Paolo Radice; Melissa C Southey; Susan Neuhausen; Claude Houdayer; Jim Fackenthal; Thomas Van Overeem Hansen; Ana Vega; Orland Diez; Rien Blok; Kathleen Claes; Barbara Wappenschmidt; Logan Walker; Amanda B Spurdle; Melissa A Brown; ENIGMA consortium

doi:10.1373/clinchem.2013.210658

Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing

Phillip J Whiley, Miguel de la Hoya, Mads Thomassen, Alexandra Becker, Rita Brandão, Inge Sokilde Pedersen, Marco Montagna, Mireia Menéndez, Francisco Quiles, Sara Gutiérrez-Enríquez, Kim De Leeneer, Anna Tenés, Gemma Montalban, Demis Tserpelis, Toshio Yoshimatsu, Carole Tirapo, Michela Raponi, Trinidad Caldes, Ana Blanco, Marta SantamariñaLucia Guidugli, Gorka Ruiz de Garibay, Ming Wong, Mariella Tancredi, Laura Fachal, Yuan Chun Ding, Torben A Kruse, Vanessa Lattimore, Ava Kwong, Tsun Leung Chan, Mara Colombo, Giovanni De Vecchi, Maria Caligo, Diana Baralle, Conxi Lázaro, Fergus Couch, Paolo Radice, Melissa C Southey, Susan Neuhausen, Claude Houdayer, Jim Fackenthal, Thomas Van Overeem Hansen, Ana Vega, Orland Diez, Rien Blok, Kathleen Claes, Barbara Wappenschmidt, Logan Walker, Amanda B Spurdle, Melissa A Brown, ENIGMA consortium

Research output: Contribution to journal › Journal article › Research › peer-review

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Abstract

Accurate evaluation of unclassified sequence variants in cancer predisposition genes is essential for clinical management and depends on a multifactorial analysis of clinical, genetic, pathologic, and bioinformatic variables and assays of transcript length and abundance. The integrity of assay data in turn relies on appropriate assay design, interpretation, and reporting.

Original language	English
Journal	Clinical Chemistry
Volume	60
Issue number	2
Pages (from-to)	341-352
Number of pages	12
ISSN	0009-9147
DOIs	https://doi.org/10.1373/clinchem.2013.210658
Publication status	Published - 2014

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Whiley, P. J., de la Hoya, M., Thomassen, M., Becker, A., Brandão, R., Pedersen, I. S., Montagna, M., Menéndez, M., Quiles, F., Gutiérrez-Enríquez, S., De Leeneer, K., Tenés, A., Montalban, G., Tserpelis, D., Yoshimatsu, T., Tirapo, C., Raponi, M., Caldes, T., Blanco, A., ... ENIGMA consortium (2014). Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing. Clinical Chemistry, 60(2), 341-352. https://doi.org/10.1373/clinchem.2013.210658

@article{f7aabb53fc414c578568308313b1bb7f,

title = "Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing",

abstract = "Accurate evaluation of unclassified sequence variants in cancer predisposition genes is essential for clinical management and depends on a multifactorial analysis of clinical, genetic, pathologic, and bioinformatic variables and assays of transcript length and abundance. The integrity of assay data in turn relies on appropriate assay design, interpretation, and reporting.",

author = "Whiley, {Phillip J} and {de la Hoya}, Miguel and Mads Thomassen and Alexandra Becker and Rita Brand{\~a}o and Pedersen, {Inge Sokilde} and Marco Montagna and Mireia Men{\'e}ndez and Francisco Quiles and Sara Guti{\'e}rrez-Enr{\'i}quez and {De Leeneer}, Kim and Anna Ten{\'e}s and Gemma Montalban and Demis Tserpelis and Toshio Yoshimatsu and Carole Tirapo and Michela Raponi and Trinidad Caldes and Ana Blanco and Marta Santamari{\~n}a and Lucia Guidugli and {de Garibay}, {Gorka Ruiz} and Ming Wong and Mariella Tancredi and Laura Fachal and Ding, {Yuan Chun} and Kruse, {Torben A} and Vanessa Lattimore and Ava Kwong and Chan, {Tsun Leung} and Mara Colombo and {De Vecchi}, Giovanni and Maria Caligo and Diana Baralle and Conxi L{\'a}zaro and Fergus Couch and Paolo Radice and Southey, {Melissa C} and Susan Neuhausen and Claude Houdayer and Jim Fackenthal and Hansen, {Thomas Van Overeem} and Ana Vega and Orland Diez and Rien Blok and Kathleen Claes and Barbara Wappenschmidt and Logan Walker and Spurdle, {Amanda B} and Brown, {Melissa A} and {ENIGMA consortium}",

year = "2014",

doi = "10.1373/clinchem.2013.210658",

language = "English",

volume = "60",

pages = "341--352",

journal = "Clinical Chemistry",

issn = "0009-9147",

publisher = "American Association for Clinical Chemistry, Inc.",

number = "2",

}

Whiley, PJ, de la Hoya, M, Thomassen, M, Becker, A, Brandão, R, Pedersen, IS, Montagna, M, Menéndez, M, Quiles, F, Gutiérrez-Enríquez, S, De Leeneer, K, Tenés, A, Montalban, G, Tserpelis, D, Yoshimatsu, T, Tirapo, C, Raponi, M, Caldes, T, Blanco, A, Santamariña, M, Guidugli, L, de Garibay, GR, Wong, M, Tancredi, M, Fachal, L, Ding, YC, Kruse, TA, Lattimore, V, Kwong, A, Chan, TL, Colombo, M, De Vecchi, G, Caligo, M, Baralle, D, Lázaro, C, Couch, F, Radice, P, Southey, MC, Neuhausen, S, Houdayer, C, Fackenthal, J, Hansen, TVO, Vega, A, Diez, O, Blok, R, Claes, K, Wappenschmidt, B, Walker, L, Spurdle, AB, Brown, MA & ENIGMA consortium 2014, 'Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing', Clinical Chemistry, vol. 60, no. 2, pp. 341-352. https://doi.org/10.1373/clinchem.2013.210658

TY - JOUR

T1 - Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories

T2 - Recommendations for Best Practice in Standardized Clinical Testing

AU - Whiley, Phillip J

AU - de la Hoya, Miguel

AU - Thomassen, Mads

AU - Becker, Alexandra

AU - Brandão, Rita

AU - Pedersen, Inge Sokilde

AU - Montagna, Marco

AU - Menéndez, Mireia

AU - Quiles, Francisco

AU - Gutiérrez-Enríquez, Sara

AU - De Leeneer, Kim

AU - Tenés, Anna

AU - Montalban, Gemma

AU - Tserpelis, Demis

AU - Yoshimatsu, Toshio

AU - Tirapo, Carole

AU - Raponi, Michela

AU - Caldes, Trinidad

AU - Blanco, Ana

AU - Santamariña, Marta

AU - Guidugli, Lucia

AU - de Garibay, Gorka Ruiz

AU - Wong, Ming

AU - Tancredi, Mariella

AU - Fachal, Laura

AU - Ding, Yuan Chun

AU - Kruse, Torben A

AU - Lattimore, Vanessa

AU - Kwong, Ava

AU - Chan, Tsun Leung

AU - Colombo, Mara

AU - De Vecchi, Giovanni

AU - Caligo, Maria

AU - Baralle, Diana

AU - Lázaro, Conxi

AU - Couch, Fergus

AU - Radice, Paolo

AU - Southey, Melissa C

AU - Neuhausen, Susan

AU - Houdayer, Claude

AU - Fackenthal, Jim

AU - Hansen, Thomas Van Overeem

AU - Vega, Ana

AU - Diez, Orland

AU - Blok, Rien

AU - Claes, Kathleen

AU - Wappenschmidt, Barbara

AU - Walker, Logan

AU - Spurdle, Amanda B

AU - Brown, Melissa A

AU - ENIGMA consortium

PY - 2014

Y1 - 2014

N2 - Accurate evaluation of unclassified sequence variants in cancer predisposition genes is essential for clinical management and depends on a multifactorial analysis of clinical, genetic, pathologic, and bioinformatic variables and assays of transcript length and abundance. The integrity of assay data in turn relies on appropriate assay design, interpretation, and reporting.

AB - Accurate evaluation of unclassified sequence variants in cancer predisposition genes is essential for clinical management and depends on a multifactorial analysis of clinical, genetic, pathologic, and bioinformatic variables and assays of transcript length and abundance. The integrity of assay data in turn relies on appropriate assay design, interpretation, and reporting.

U2 - 10.1373/clinchem.2013.210658

DO - 10.1373/clinchem.2013.210658

M3 - Journal article

C2 - 24212087

SN - 0009-9147

VL - 60

SP - 341

EP - 352

JO - Clinical Chemistry

JF - Clinical Chemistry

IS - 2

ER -

Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing

Abstract

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