Whole exome sequencing becomes a must in daily practice due to the changing demographic pattern; 100 patients and beyond

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

Bourchany, Aurélie
Thauvin-Robinet, Christel
Lehalle, Daphne
Bruel, Ange-Line
Masurel-Paulet, Paul
Jean, Nolwenn
Nambot, Sophie
Willems, Marjorie
Lambert, Laetitia
El Chehadeh-Djebbar, Salima
Schaefer, Elise
Jaquette, Aurélia
St-Onge, Judith
Poe, Charlotte
Jouan, Thibaud
Chevarin, Martin
Callier, Patrick
Mosca-Boidron, Anne-Laure
Laurent, Nicole
Lefebvre, Mathilde
Huet, Frédéric
Houcinat, Nada
Moutton, Sébastien
Philippe, Christophe
Tran-Mau-Them, Frédéric
Vitobello, Antonio
Kuentz, Paul
Duffourd, Yannis
Rivière, Jean-Baptiste
Thevenon, Julien
Faivre, Laurence

November 2017

IF 2.137International audienceBACKGROUND AND OBJECTIVE:Whole-exome sequencing (WES) has now entered ...

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

Bourchany, Aurélie
Thauvin-Robinet, Christel
Lehalle, Daphne
Bruel, Ange-Line
Masurel-Paulet, Paul
Jean, Nolwenn
Nambot, Sophie
Willems, Marjorie
Lambert, Laetitia
El Chehadeh-Djebbar, Salima
Schaefer, Elise
Jaquette, Aurélia
St-Onge, Judith
Poe, Charlotte
Jouan, Thibaud
Chevarin, Martin
Callier, Patrick
Mosca-Boidron, Anne-Laure
Laurent, Nicole
Lefebvre, Mathilde
Huet, Frédéric
Houcinat, Nada
Moutton, Sébastien
Philippe, Christophe
Tran-Mau-Them, Frédéric
Vitobello, Antonio
Kuentz, Paul
Duffourd, Yannis
Rivière, Jean-Baptiste
Thevenon, Julien
Faivre, Laurence

November 2017

IF 2.137International audienceBACKGROUND AND OBJECTIVE:Whole-exome sequencing (WES) has now entered ...

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

Bourchany, Aurélie
Thauvin-Robinet, Christel
Lehalle, Daphne
Bruel, Ange-Line
Masurel-Paulet, Paul
Jean, Nolwenn
Nambot, Sophie
Willems, Marjorie
Lambert, Laetitia
El Chehadeh-Djebbar, Salima
Schaefer, Elise
Jaquette, Aurélia
St-Onge, Judith
Poe, Charlotte
Jouan, Thibaud
Chevarin, Martin
Callier, Patrick
Mosca-Boidron, Anne-Laure
Laurent, Nicole
Lefebvre, Mathilde
Huet, Frédéric
Houcinat, Nada
Moutton, Sébastien
Philippe, Christophe
Tran-Mau-Them, Frédéric
Vitobello, Antonio
Kuentz, Paul
Duffourd, Yannis
Rivière, Jean-Baptiste
Thevenon, Julien
Faivre, Laurence

November 2017

IF 2.137International audienceBACKGROUND AND OBJECTIVE:Whole-exome sequencing (WES) has now entered ...

Phenomics is still more powerful than whole-exome sequencing: their role in clinical genetics

Bozdogan, S. T.
Boga, I.
Bisgin, A.

January 2019

52nd Conference of the European-Society-of-Human-Genetics (ESHG) -- JUN 15-18, 2019 -- Gothenburg, S...

What can exome sequencing do for

Jacek Majewski
Jeremy Schwartzentruber
Emilie Lalonde
Re Montpetit
Nada Jabado

January 2011

Recent advances in next-generation sequencing technologies have brought a paradigm shift in how medi...

Chromosomal alterations in patients with breast cancer

Demirhan, O.
Tanriverdi, N.
Pazarbasi, A.
Suleymanova, D.

January 2018

50th European-Society-of-Human-Genetics (ESHG) Conference -- MAY 27-30, 2017 -- Copenhagen, DENMARKW...

Cambridge HealthTech Institute Clinical Genomics Podcast: Highlights from the Upcoming Clinical Exome Sequencing Conference

Lyon, Gholson J.

November 2013

Kip Harry interviews Gholson Lyon of the Cold Spring Harbor Laboratory on September 13, 2013. Dr. Ly...

Comprehensive targeted next-generation sequencing panel: A rapid diagnostic tool for unraveling primary immunodeficiencies in pediatric patients

Aykut, A.
Karaca, N.
Durmaz, A.
Pariltay, E.
Aksu, G.
Kutukculer, N.
Cogulu, O.

January 2018

50th European-Society-of-Human-Genetics (ESHG) Conference -- MAY 27-30, 2017 -- Copenhagen, DENMARKK...

Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views

Bertier, Gabrielle
Hétu, Martin
Joly, Yann

August 2016

International audienceBACKGROUND:Whole-exome sequencing (WES) consists in the capture, sequencing an...

Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views

Bertier, Gabrielle
Hétu, Martin
Joly, Yann

August 2016

International audienceBACKGROUND:Whole-exome sequencing (WES) consists in the capture, sequencing an...

Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views

Bertier, Gabrielle
Hétu, Martin
Joly, Yann

August 2016

International audienceBACKGROUND:Whole-exome sequencing (WES) consists in the capture, sequencing an...

Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views

Bertier, Gabrielle
Hétu, Martin
Joly, Yann

August 2016

International audienceBACKGROUND:Whole-exome sequencing (WES) consists in the capture, sequencing an...

Achieving high-sensitivity for clinical applications using augmented exome sequencing

Butte, Atul
Patwardhan, A
Harris, J
Leng, N
Bartha, G
Church, DM
Luo, S
Haudenschild, C
Pratt, M
Zook, J
Salit, M

July 2015

Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics

El, C.G. van
Cornel, M.C.
Borry, P.
Hastings, R.J.
Fellmann, F.
Hodgson, S.
Howard, H.C.
Cambon-Thomsen, A.
Knoppers, B.M.
Meijers-Heijboer, H.
Scheffer, H.
Tranebjaerg, L.
Dondorp, W.
Wert, G.M.W.R. de
Committee, E.P.a.P.P.

January 2013

Contains fulltext : 134632.pdf (publisher's version ) (Closed access

Recommendations for whole genome sequencing in diagnostics for rare diseases

Souche, Erika
Beltran, Sergi
Weiss, Marjan M.

January 2022

In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published by EuroGente...

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

Bourchany, Aurélie
Thauvin-Robinet, Christel
Lehalle, Daphne
Bruel, Ange-Line
Masurel-Paulet, Paul
Jean, Nolwenn
Nambot, Sophie
Willems, Marjorie
Lambert, Laetitia
El Chehadeh-Djebbar, Salima
Schaefer, Elise
Jaquette, Aurélia
St-Onge, Judith
Poe, Charlotte
Jouan, Thibaud
Chevarin, Martin
Callier, Patrick
Mosca-Boidron, Anne-Laure
Laurent, Nicole
Lefebvre, Mathilde
Huet, Frédéric
Houcinat, Nada
Moutton, Sébastien
Philippe, Christophe
Tran-Mau-Them, Frédéric
Vitobello, Antonio
Kuentz, Paul
Duffourd, Yannis
Rivière, Jean-Baptiste
Thevenon, Julien
Faivre, Laurence

November 2017

IF 2.137International audienceBACKGROUND AND OBJECTIVE:Whole-exome sequencing (WES) has now entered ...

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

Bourchany, Aurélie
Thauvin-Robinet, Christel
Lehalle, Daphne
Bruel, Ange-Line
Masurel-Paulet, Paul
Jean, Nolwenn
Nambot, Sophie
Willems, Marjorie
Lambert, Laetitia
El Chehadeh-Djebbar, Salima
Schaefer, Elise
Jaquette, Aurélia
St-Onge, Judith
Poe, Charlotte
Jouan, Thibaud
Chevarin, Martin
Callier, Patrick
Mosca-Boidron, Anne-Laure
Laurent, Nicole
Lefebvre, Mathilde
Huet, Frédéric
Houcinat, Nada
Moutton, Sébastien
Philippe, Christophe
Tran-Mau-Them, Frédéric
Vitobello, Antonio
Kuentz, Paul
Duffourd, Yannis
Rivière, Jean-Baptiste
Thevenon, Julien
Faivre, Laurence

November 2017

IF 2.137International audienceBACKGROUND AND OBJECTIVE:Whole-exome sequencing (WES) has now entered ...

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

Bourchany, Aurélie
Thauvin-Robinet, Christel
Lehalle, Daphne
Bruel, Ange-Line
Masurel-Paulet, Paul
Jean, Nolwenn
Nambot, Sophie
Willems, Marjorie
Lambert, Laetitia
El Chehadeh-Djebbar, Salima
Schaefer, Elise
Jaquette, Aurélia
St-Onge, Judith
Poe, Charlotte
Jouan, Thibaud
Chevarin, Martin
Callier, Patrick
Mosca-Boidron, Anne-Laure
Laurent, Nicole
Lefebvre, Mathilde
Huet, Frédéric
Houcinat, Nada
Moutton, Sébastien
Philippe, Christophe
Tran-Mau-Them, Frédéric
Vitobello, Antonio
Kuentz, Paul
Duffourd, Yannis
Rivière, Jean-Baptiste
Thevenon, Julien
Faivre, Laurence

November 2017

IF 2.137International audienceBACKGROUND AND OBJECTIVE:Whole-exome sequencing (WES) has now entered ...

Phenomics is still more powerful than whole-exome sequencing: their role in clinical genetics

Bozdogan, S. T.
Boga, I.
Bisgin, A.

January 2019

52nd Conference of the European-Society-of-Human-Genetics (ESHG) -- JUN 15-18, 2019 -- Gothenburg, S...

What can exome sequencing do for

Jacek Majewski
Jeremy Schwartzentruber
Emilie Lalonde
Re Montpetit
Nada Jabado

January 2011

Recent advances in next-generation sequencing technologies have brought a paradigm shift in how medi...

Chromosomal alterations in patients with breast cancer

Demirhan, O.
Tanriverdi, N.
Pazarbasi, A.
Suleymanova, D.

January 2018

50th European-Society-of-Human-Genetics (ESHG) Conference -- MAY 27-30, 2017 -- Copenhagen, DENMARKW...

Cambridge HealthTech Institute Clinical Genomics Podcast: Highlights from the Upcoming Clinical Exome Sequencing Conference

Lyon, Gholson J.

November 2013

Kip Harry interviews Gholson Lyon of the Cold Spring Harbor Laboratory on September 13, 2013. Dr. Ly...

Comprehensive targeted next-generation sequencing panel: A rapid diagnostic tool for unraveling primary immunodeficiencies in pediatric patients

Aykut, A.
Karaca, N.
Durmaz, A.
Pariltay, E.
Aksu, G.
Kutukculer, N.
Cogulu, O.

January 2018

50th European-Society-of-Human-Genetics (ESHG) Conference -- MAY 27-30, 2017 -- Copenhagen, DENMARKK...

Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views

Bertier, Gabrielle
Hétu, Martin
Joly, Yann

August 2016

International audienceBACKGROUND:Whole-exome sequencing (WES) consists in the capture, sequencing an...

Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views

Bertier, Gabrielle
Hétu, Martin
Joly, Yann

August 2016

International audienceBACKGROUND:Whole-exome sequencing (WES) consists in the capture, sequencing an...

Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views

Bertier, Gabrielle
Hétu, Martin
Joly, Yann

August 2016

International audienceBACKGROUND:Whole-exome sequencing (WES) consists in the capture, sequencing an...

Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views

Bertier, Gabrielle
Hétu, Martin
Joly, Yann

August 2016

International audienceBACKGROUND:Whole-exome sequencing (WES) consists in the capture, sequencing an...

Achieving high-sensitivity for clinical applications using augmented exome sequencing

Butte, Atul
Patwardhan, A
Harris, J
Leng, N
Bartha, G
Church, DM
Luo, S
Haudenschild, C
Pratt, M
Zook, J
Salit, M

July 2015

Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics

El, C.G. van
Cornel, M.C.
Borry, P.
Hastings, R.J.
Fellmann, F.
Hodgson, S.
Howard, H.C.
Cambon-Thomsen, A.
Knoppers, B.M.
Meijers-Heijboer, H.
Scheffer, H.
Tranebjaerg, L.
Dondorp, W.
Wert, G.M.W.R. de
Committee, E.P.a.P.P.

January 2013

Contains fulltext : 134632.pdf (publisher's version ) (Closed access

Recommendations for whole genome sequencing in diagnostics for rare diseases

Souche, Erika
Beltran, Sergi
Weiss, Marjan M.

January 2022

In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published by EuroGente...

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

Bourchany, Aurélie
Thauvin-Robinet, Christel
Lehalle, Daphne
Bruel, Ange-Line
Masurel-Paulet, Paul
Jean, Nolwenn
Nambot, Sophie
Willems, Marjorie
Lambert, Laetitia
El Chehadeh-Djebbar, Salima
Schaefer, Elise
Jaquette, Aurélia
St-Onge, Judith
Poe, Charlotte
Jouan, Thibaud
Chevarin, Martin
Callier, Patrick
Mosca-Boidron, Anne-Laure
Laurent, Nicole
Lefebvre, Mathilde
Huet, Frédéric
Houcinat, Nada
Moutton, Sébastien
Philippe, Christophe
Tran-Mau-Them, Frédéric
Vitobello, Antonio
Kuentz, Paul
Duffourd, Yannis
Rivière, Jean-Baptiste
Thevenon, Julien
Faivre, Laurence

November 2017

IF 2.137International audienceBACKGROUND AND OBJECTIVE:Whole-exome sequencing (WES) has now entered ...

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

Bourchany, Aurélie
Thauvin-Robinet, Christel
Lehalle, Daphne
Bruel, Ange-Line
Masurel-Paulet, Paul
Jean, Nolwenn
Nambot, Sophie
Willems, Marjorie
Lambert, Laetitia
El Chehadeh-Djebbar, Salima
Schaefer, Elise
Jaquette, Aurélia
St-Onge, Judith
Poe, Charlotte
Jouan, Thibaud
Chevarin, Martin
Callier, Patrick
Mosca-Boidron, Anne-Laure
Laurent, Nicole
Lefebvre, Mathilde
Huet, Frédéric
Houcinat, Nada
Moutton, Sébastien
Philippe, Christophe
Tran-Mau-Them, Frédéric
Vitobello, Antonio
Kuentz, Paul
Duffourd, Yannis
Rivière, Jean-Baptiste
Thevenon, Julien
Faivre, Laurence

November 2017

IF 2.137International audienceBACKGROUND AND OBJECTIVE:Whole-exome sequencing (WES) has now entered ...

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

Bourchany, Aurélie
Thauvin-Robinet, Christel
Lehalle, Daphne
Bruel, Ange-Line
Masurel-Paulet, Paul
Jean, Nolwenn
Nambot, Sophie
Willems, Marjorie
Lambert, Laetitia
El Chehadeh-Djebbar, Salima
Schaefer, Elise
Jaquette, Aurélia
St-Onge, Judith
Poe, Charlotte
Jouan, Thibaud
Chevarin, Martin
Callier, Patrick
Mosca-Boidron, Anne-Laure
Laurent, Nicole
Lefebvre, Mathilde
Huet, Frédéric
Houcinat, Nada
Moutton, Sébastien
Philippe, Christophe
Tran-Mau-Them, Frédéric
Vitobello, Antonio
Kuentz, Paul
Duffourd, Yannis
Rivière, Jean-Baptiste
Thevenon, Julien
Faivre, Laurence

November 2017

IF 2.137International audienceBACKGROUND AND OBJECTIVE:Whole-exome sequencing (WES) has now entered ...

Whole exome sequencing becomes a must in daily practice due to the changing demographic pattern; 100 patients and beyond

Abstract

Extracted data

Whole exome sequencing becomes a must in daily practice due to the changing demographic pattern; 100 patients and beyond

Abstract

Extracted data

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