A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Multi-Institutional FASTQ File Exchange as a Means of Proficiency Testing for Next-Generation Sequencing Bioinformatics and Variant Interpretation

Davies, Kurtis D.
Farooqi, Midhat S.
Gruidl, Mike
Hill, Charles E.
Woolworth-Hirschhorn, Julie
Jones, Heather
Jones, Kenneth L.
Magliocco, Anthony
Mitui, Midori
O'Neill, Philip H.
O'Rourke, Rebecca
Patel, Nirali M.
Qin, Dahui
Ramos, Erica
Rossi, Michael R.
Schneider, Thomas M.
Smith, Geoffrey H.
Zhang, Linsheng
Park, Jason Y.
Aisner, Dara L.

January 2016

Next-generation sequencing is becoming increasingly common in clinical laboratories worldwide and is...

Reporting practices for unsolicited and secondary findings from next-generation sequencing technologies: Perspectives of laboratory personnel.

Vears, DF
Sénécal, K
Borry, P

August 2017

While next-generation sequencing (NGS) has enormous potential to identify genetic causes of disease,...

The Enigma of Clinical Next Generation Sequencing (NGS) based Genetic Testing Variant Annotation Tools: A Performance Evaluation Study

Tuteja, Sachleen, \u2723

November 2021

As the scientific community continues to discover novel genetic variants associated with human const...

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

O'Daniel, Julianne M.
McLaughlin, Heather M.
Amendola, Laura M.
Bale, Sherri J.
Berg, Jonathan S.
Bick, David
Bowling, Kevin M.
Chao, Elizabeth C.
Chung, Wendy K.
Conlin, Laura K.
Cooper, Gregory M.
Das, Soma
Deignan, Joshua L.
Dorschner, Michael O.
Evans, James P.
Ghazani, Arezou A.
Goddard, Katrina A.
Gornick, Michele
Farwell Hagman, Kelly D.
Hambuch, Tina
Hegde, Madhuri
Hindorff, Lucia A.
Holm, Ingrid A.
Jarvik, Gail P.
Knight Johnson, Amy
Mighion, Lindsey
Morra, Massimo
Plon, Sharon E.
Punj, Sumit
Richards, C. Sue
Santani, Avni
Shirts, Brian H.
Spinner, Nancy B.
Tang, Sha
Weck, Karen E.
Wolf, Susan M.
Yang, Yaping
Rehm, Heidi L.

January 2017

While the diagnostic success of genomic sequencing expands, the complexity of this testing should no...

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

O'Daniel, Julianne M
McLaughlin, Heather M
Amendola, Laura M
Bale, Sherri J
Berg, Jonathan S
Bick, David
Bowling, Kevin M
Chao, Elizabeth C
Chung, Wendy K
Conlin, Laura K
Cooper, Gregory M
Das, Soma
Deignan, Joshua L
Dorschner, Michael O
Evans, James P
Ghazani, Arezou A
Goddard, Katrina A
Gornick, Michele
Farwell Hagman, Kelly D
Hambuch, Tina
Hegde, Madhuri
Hindorff, Lucia A
Holm, Ingrid A
Jarvik, Gail P
Knight Johnson, Amy
Mighion, Lindsey
Morra, Massimo
Plon, Sharon E
Punj, Sumit
Richards, C Sue
Santani, Avni
Shirts, Brian H
Spinner, Nancy B
Tang, Sha
Weck, Karen E
Wolf, Susan M
Yang, Yaping
Rehm, Heidi L

May 2017

While the diagnostic success of genomic sequencing expands, the complexity of this testing should no...

J Mol Diagn

This report of the Whole Genome Analysis group of the Association for Molecular Pathology illuminate...

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY challenge

Brownstein, Catherine A.
Beggs, Alan H.
Homer, Nils
Merriman, Barry
Yu, Timothy W.
Flannery, Katherine C.
DeChene, Elizabeth T.
Towne, Meghan C.
Savage, Sarah K.
Price, Emily N.
Holm, Ingrid A.
Juquette, Lovelace J.
Lyon, Elaine
Majzoub, Joseph
Neupert, Peter
Llorca Díaz, Francisco Javier
Varela Egocheaga, Ignacio
García Lobo, Juan María
González-Lamuño Leguina, Domingo

January 2014

Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and ca...

The business of genomic testing: a survey of early adopters

Crawford, J. M.
Bry, L.
Pfeifer, J.
Caughron, S. K.
Black-Schaffer, S.
Kant, J. A.
Kaufman, J. H.

January 2014

Purpose: The practice of genomic (or personalized ) medicine requires the availability of appropr...

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Brownstein, C. A.
Beggs, A. H.
Homer, N.
Merriman, B.
Yu, T. W.
Flannery, K. C.
Dechene, E. T.
Towne, M. C.
Savage, S. K.
Price, E. N.
Holm, I. A.
Luquette, L. J.
Lyon, E.
Majzoub, J.
Neupert, P.
McCallie, D.
Szolovits, P.
Willard, H. F.
Mendelsohn, N. J.
Temme, R.
Finkel, R. S.
Yum, S. W.
Medne, L.
Sunyaev, S. R.
Adzhubey, I.
Cassa, C. A.
de Bakker, P. I.
Duzkale, H.
Dworzy Ski, P.
Fairbrother, W.
Francioli, L.
Funke, B. H.
Giovanni, M. A.
Handsaker, R. E.
Lage, K.
Lebo, M. S.
Lek, M.
Leshchiner, I.
Macarthur, D. G.
McLaughlin, H. M.
Murray, M. F.
Pers, T. H.
Polak, P. P.
Raychaudhuri, S.
Rehm, H. L.
Soemedi, R.
Stitziel, N. O.
Vestecka, S.
Supper, J.
Gugenmus, C.
Klocke, B.
Hahn, A.
Schubach, M.
Menzel, M.
Biskup, S.
Freisinger, P.
Deng, M.
Braun, M.
Perner, S.
Smith, R. J.
Andorf, J. L.
Huang, J.
Ryckman, K.
Sheffield, V. C.
Stone, E. M.
Bair, T.
Black-Ziegelbein, E. A.
Braun, T. A.
Darbro, B.
Deluca, A. P.
Kolbe, D. L.
Scheetz, T. E.
Shearer, A. E.
Sompallae, R.
Wang, K.
Bassuk, A. G.
Edens, E.
Mathews, K.
Moore, S. A.
Shchelochkov, O. A.
Trapane, P.
Bossler, A.
Campbell, C. A.
Heusel, J. W.
Kwitek, A.
Maga, T.
Panzer, K.
Wassink, T.
Van Daele, D.
Azaiez, H.
Booth, K.
Meyer, N.
Segal, M. M.
Williams, M. S.
Tromp, G.
White, P.
Corsmeier, D.
Fitzgerald-Butt, S.
Herman, G.
Lamb-Thrush, D.

March 2014

BACKGROUND: There is tremendous potential for genome sequencing to improve clinical diagnosis and ca...

Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.

Allen, S
Loong, L
Garrett, A
Torr, B
Durkie, M
Drummond, J
Callaway, A
Robinson, R
Burghel, GJ
Hanson, H
Field, J
McDevitt, T
McVeigh, TP
Bedenham, T
Bowles, C
Bradshaw, K
Brooks, C
Butler, S
Del Rey Jimenez, JC
Hawkes, L
Stinton, V
MacMahon, S
Owens, M
Palmer-Smith, S
Smith, K
Tellez, J
Valganon-Petrizan, M
Waskiewicz, E
Yau, M
Eccles, DM
Tischkowitz, M
Goel, S
McRonald, F
Antoniou, AC
Morris, E
Hardy, S
Turnbull, C

January 2024

BACKGROUND: National and international amalgamation of genomic data offers opportunity for research ...

Reporting Incidental Findings in Genomic Scale Clinical Sequencing-A Clinical Laboratory Perspective: A Report of the Association for Molecular Pathology

Hegde, M.
Bale, S.
Bayrak-Toydemir, P.
Gibson, J.
Bone Jeng, L. J.
Joseph, L.
Laser, J.
Tanner, A. K.
Vitazka, P.
Mao, R.
+4 additional authors

January 2015

Advances in sequencing technologies have facilitated concurrent testing for many disorders, and the ...

Reporting Incidental Findings in Genomic Scale Clinical Sequencing-A Clinical Laboratory Perspective A Report of the Association for Molecular Pathology

January 2015

Advances in sequencing technologies have facilitated concurrent testing for many disorders, and the ...

Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey

Allen, S.
Loong, L.
Garrett, A.
Torr, B.
Durkie, M.
Drummond, J.
Callaway, A.
Robinson, R.
Burghel, G.J.
Hanson, H.
Field, J.
McDevitt, T.
McVeigh, T.P.
Bedenham, T.
Bowles, C.
Bradshaw, K.
Brooks, C.
Butler, S.
Del Rey Jimenez, J.C.
Hawkes, L.
Stinton, V.
MacMahon, S.
Owens, M.
Palmer-Smith, S.
Smith, K.
Tellez, J.
Valganon-Petrizan, M.
Waskiewicz, E.
Yau, M.
Eccles, D.M.
Tischkowitz, M.
Goel, S.
McRonald, F.
Antoniou, A.C.
Morris, E.
Hardy, S.
Turnbull, C.

December 2023

Background National and international amalgamation of genomic data offers opportunity for research a...

Reporting practices for unsolicited and secondary findings from next-generation sequencing technologies: Perspectives of laboratory personnel

Vears, Danya
Sénécal, Karine
Borry, Pascal

August 2017

While next-generation sequencing (NGS) has enormous potential to identify genetic causes of disease,...

Exploration of genetic health professional - laboratory specialist interactions in diagnostic genomic sequencing

Vears, Danya F
Senecal, Karine
Borry, Pascal

March 2020

Like any new technology, rapid integration of genomic sequencing (GS) into the clinical setting can ...

Multi-Institutional FASTQ File Exchange as a Means of Proficiency Testing for Next-Generation Sequencing Bioinformatics and Variant Interpretation

Davies, Kurtis D.
Farooqi, Midhat S.
Gruidl, Mike
Hill, Charles E.
Woolworth-Hirschhorn, Julie
Jones, Heather
Jones, Kenneth L.
Magliocco, Anthony
Mitui, Midori
O'Neill, Philip H.
O'Rourke, Rebecca
Patel, Nirali M.
Qin, Dahui
Ramos, Erica
Rossi, Michael R.
Schneider, Thomas M.
Smith, Geoffrey H.
Zhang, Linsheng
Park, Jason Y.
Aisner, Dara L.

January 2016

Next-generation sequencing is becoming increasingly common in clinical laboratories worldwide and is...

Reporting practices for unsolicited and secondary findings from next-generation sequencing technologies: Perspectives of laboratory personnel.

Vears, DF
Sénécal, K
Borry, P

August 2017

While next-generation sequencing (NGS) has enormous potential to identify genetic causes of disease,...

The Enigma of Clinical Next Generation Sequencing (NGS) based Genetic Testing Variant Annotation Tools: A Performance Evaluation Study

Tuteja, Sachleen, \u2723

November 2021

As the scientific community continues to discover novel genetic variants associated with human const...

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

O'Daniel, Julianne M.
McLaughlin, Heather M.
Amendola, Laura M.
Bale, Sherri J.
Berg, Jonathan S.
Bick, David
Bowling, Kevin M.
Chao, Elizabeth C.
Chung, Wendy K.
Conlin, Laura K.
Cooper, Gregory M.
Das, Soma
Deignan, Joshua L.
Dorschner, Michael O.
Evans, James P.
Ghazani, Arezou A.
Goddard, Katrina A.
Gornick, Michele
Farwell Hagman, Kelly D.
Hambuch, Tina
Hegde, Madhuri
Hindorff, Lucia A.
Holm, Ingrid A.
Jarvik, Gail P.
Knight Johnson, Amy
Mighion, Lindsey
Morra, Massimo
Plon, Sharon E.
Punj, Sumit
Richards, C. Sue
Santani, Avni
Shirts, Brian H.
Spinner, Nancy B.
Tang, Sha
Weck, Karen E.
Wolf, Susan M.
Yang, Yaping
Rehm, Heidi L.

January 2017

While the diagnostic success of genomic sequencing expands, the complexity of this testing should no...

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

O'Daniel, Julianne M
McLaughlin, Heather M
Amendola, Laura M
Bale, Sherri J
Berg, Jonathan S
Bick, David
Bowling, Kevin M
Chao, Elizabeth C
Chung, Wendy K
Conlin, Laura K
Cooper, Gregory M
Das, Soma
Deignan, Joshua L
Dorschner, Michael O
Evans, James P
Ghazani, Arezou A
Goddard, Katrina A
Gornick, Michele
Farwell Hagman, Kelly D
Hambuch, Tina
Hegde, Madhuri
Hindorff, Lucia A
Holm, Ingrid A
Jarvik, Gail P
Knight Johnson, Amy
Mighion, Lindsey
Morra, Massimo
Plon, Sharon E
Punj, Sumit
Richards, C Sue
Santani, Avni
Shirts, Brian H
Spinner, Nancy B
Tang, Sha
Weck, Karen E
Wolf, Susan M
Yang, Yaping
Rehm, Heidi L

May 2017

While the diagnostic success of genomic sequencing expands, the complexity of this testing should no...

J Mol Diagn

This report of the Whole Genome Analysis group of the Association for Molecular Pathology illuminate...

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY challenge

Brownstein, Catherine A.
Beggs, Alan H.
Homer, Nils
Merriman, Barry
Yu, Timothy W.
Flannery, Katherine C.
DeChene, Elizabeth T.
Towne, Meghan C.
Savage, Sarah K.
Price, Emily N.
Holm, Ingrid A.
Juquette, Lovelace J.
Lyon, Elaine
Majzoub, Joseph
Neupert, Peter
Llorca Díaz, Francisco Javier
Varela Egocheaga, Ignacio
García Lobo, Juan María
González-Lamuño Leguina, Domingo

January 2014

Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and ca...

The business of genomic testing: a survey of early adopters

Crawford, J. M.
Bry, L.
Pfeifer, J.
Caughron, S. K.
Black-Schaffer, S.
Kant, J. A.
Kaufman, J. H.

January 2014

Purpose: The practice of genomic (or personalized ) medicine requires the availability of appropr...

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Brownstein, C. A.
Beggs, A. H.
Homer, N.
Merriman, B.
Yu, T. W.
Flannery, K. C.
Dechene, E. T.
Towne, M. C.
Savage, S. K.
Price, E. N.
Holm, I. A.
Luquette, L. J.
Lyon, E.
Majzoub, J.
Neupert, P.
McCallie, D.
Szolovits, P.
Willard, H. F.
Mendelsohn, N. J.
Temme, R.
Finkel, R. S.
Yum, S. W.
Medne, L.
Sunyaev, S. R.
Adzhubey, I.
Cassa, C. A.
de Bakker, P. I.
Duzkale, H.
Dworzy Ski, P.
Fairbrother, W.
Francioli, L.
Funke, B. H.
Giovanni, M. A.
Handsaker, R. E.
Lage, K.
Lebo, M. S.
Lek, M.
Leshchiner, I.
Macarthur, D. G.
McLaughlin, H. M.
Murray, M. F.
Pers, T. H.
Polak, P. P.
Raychaudhuri, S.
Rehm, H. L.
Soemedi, R.
Stitziel, N. O.
Vestecka, S.
Supper, J.
Gugenmus, C.
Klocke, B.
Hahn, A.
Schubach, M.
Menzel, M.
Biskup, S.
Freisinger, P.
Deng, M.
Braun, M.
Perner, S.
Smith, R. J.
Andorf, J. L.
Huang, J.
Ryckman, K.
Sheffield, V. C.
Stone, E. M.
Bair, T.
Black-Ziegelbein, E. A.
Braun, T. A.
Darbro, B.
Deluca, A. P.
Kolbe, D. L.
Scheetz, T. E.
Shearer, A. E.
Sompallae, R.
Wang, K.
Bassuk, A. G.
Edens, E.
Mathews, K.
Moore, S. A.
Shchelochkov, O. A.
Trapane, P.
Bossler, A.
Campbell, C. A.
Heusel, J. W.
Kwitek, A.
Maga, T.
Panzer, K.
Wassink, T.
Van Daele, D.
Azaiez, H.
Booth, K.
Meyer, N.
Segal, M. M.
Williams, M. S.
Tromp, G.
White, P.
Corsmeier, D.
Fitzgerald-Butt, S.
Herman, G.
Lamb-Thrush, D.

March 2014

BACKGROUND: There is tremendous potential for genome sequencing to improve clinical diagnosis and ca...

Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.

Allen, S
Loong, L
Garrett, A
Torr, B
Durkie, M
Drummond, J
Callaway, A
Robinson, R
Burghel, GJ
Hanson, H
Field, J
McDevitt, T
McVeigh, TP
Bedenham, T
Bowles, C
Bradshaw, K
Brooks, C
Butler, S
Del Rey Jimenez, JC
Hawkes, L
Stinton, V
MacMahon, S
Owens, M
Palmer-Smith, S
Smith, K
Tellez, J
Valganon-Petrizan, M
Waskiewicz, E
Yau, M
Eccles, DM
Tischkowitz, M
Goel, S
McRonald, F
Antoniou, AC
Morris, E
Hardy, S
Turnbull, C

January 2024

BACKGROUND: National and international amalgamation of genomic data offers opportunity for research ...

Reporting Incidental Findings in Genomic Scale Clinical Sequencing-A Clinical Laboratory Perspective: A Report of the Association for Molecular Pathology

Hegde, M.
Bale, S.
Bayrak-Toydemir, P.
Gibson, J.
Bone Jeng, L. J.
Joseph, L.
Laser, J.
Tanner, A. K.
Vitazka, P.
Mao, R.
+4 additional authors

January 2015

Advances in sequencing technologies have facilitated concurrent testing for many disorders, and the ...

Reporting Incidental Findings in Genomic Scale Clinical Sequencing-A Clinical Laboratory Perspective A Report of the Association for Molecular Pathology

January 2015

Advances in sequencing technologies have facilitated concurrent testing for many disorders, and the ...

Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey

Allen, S.
Loong, L.
Garrett, A.
Torr, B.
Durkie, M.
Drummond, J.
Callaway, A.
Robinson, R.
Burghel, G.J.
Hanson, H.
Field, J.
McDevitt, T.
McVeigh, T.P.
Bedenham, T.
Bowles, C.
Bradshaw, K.
Brooks, C.
Butler, S.
Del Rey Jimenez, J.C.
Hawkes, L.
Stinton, V.
MacMahon, S.
Owens, M.
Palmer-Smith, S.
Smith, K.
Tellez, J.
Valganon-Petrizan, M.
Waskiewicz, E.
Yau, M.
Eccles, D.M.
Tischkowitz, M.
Goel, S.
McRonald, F.
Antoniou, A.C.
Morris, E.
Hardy, S.
Turnbull, C.

December 2023

Background National and international amalgamation of genomic data offers opportunity for research a...

Reporting practices for unsolicited and secondary findings from next-generation sequencing technologies: Perspectives of laboratory personnel

Vears, Danya
Sénécal, Karine
Borry, Pascal

August 2017

While next-generation sequencing (NGS) has enormous potential to identify genetic causes of disease,...

Exploration of genetic health professional - laboratory specialist interactions in diagnostic genomic sequencing

Vears, Danya F
Senecal, Karine
Borry, Pascal

March 2020

Like any new technology, rapid integration of genomic sequencing (GS) into the clinical setting can ...

Multi-Institutional FASTQ File Exchange as a Means of Proficiency Testing for Next-Generation Sequencing Bioinformatics and Variant Interpretation

Davies, Kurtis D.
Farooqi, Midhat S.
Gruidl, Mike
Hill, Charles E.
Woolworth-Hirschhorn, Julie
Jones, Heather
Jones, Kenneth L.
Magliocco, Anthony
Mitui, Midori
O'Neill, Philip H.
O'Rourke, Rebecca
Patel, Nirali M.
Qin, Dahui
Ramos, Erica
Rossi, Michael R.
Schneider, Thomas M.
Smith, Geoffrey H.
Zhang, Linsheng
Park, Jason Y.
Aisner, Dara L.

January 2016

Next-generation sequencing is becoming increasingly common in clinical laboratories worldwide and is...

Reporting practices for unsolicited and secondary findings from next-generation sequencing technologies: Perspectives of laboratory personnel.

Vears, DF
Sénécal, K
Borry, P

August 2017

While next-generation sequencing (NGS) has enormous potential to identify genetic causes of disease,...

The Enigma of Clinical Next Generation Sequencing (NGS) based Genetic Testing Variant Annotation Tools: A Performance Evaluation Study

Tuteja, Sachleen, \u2723

November 2021

As the scientific community continues to discover novel genetic variants associated with human const...

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Abstract

Extracted data

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Abstract

Extracted data

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