Additional file 3: of Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis

Aparna Prasad (75299)
Matthew Sdano (4978001)
Rena Vanzo (3609362)
Patricia Mowery-Rushton (4978010)
Moises Serrano (4978007)
Charles Hensel (4978004)
E. Wassman (4978013)

Publication date

March 2018

DOI

10.6084/m9.figshare.6003374.v1

Abstract

A scatter plot showing correlation of percent of homozygosity with the number of homozygous likely gene disrupting variants predicted to be deleterious. At this stage, no frequency filter was applied. (DOCX 124Â kb

Extracted data

We use cookies to provide a better user experience.

Data Protection

Additional file 3: of Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis

Aparna Prasad (75299)
Matthew Sdano (4978001)
Rena Vanzo (3609362)
Patricia Mowery-Rushton (4978010)
Moises Serrano (4978007)
Charles Hensel (4978004)
E. Wassman (4978013)

Open link

Publication date

March 2018

DOI

10.6084/m9.figshare.6003374.v1

Abstract

Extracted data

Donavan Cheng (4037918)
Meera Prasad (2583382)
Yvonne Chekaluk (399258)
Ryma Benayed (4037909)
Justyna Sadowska (4037903)
Ahmet Zehir (3857197)
Aijazuddin Syed (4037906)
Yan Wang (15435)
Joshua Somar (3361277)
Yirong Li (144277)
Zarina Yelskaya (587191)
Donna Wong (4037915)
Mark Robson (70145)
Kenneth Offit (63812)
Michael Berger (281817)
Khedoudja Nafa (4037912)
Marc Ladanyi (4470)
Liying Zhang (102453)

May 2017

Allele frequency for non-reproducible false positive variants. Allele frequency (VF â x axis) is p...

Additional file 10: of Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families

Rajendra Shahi (6557546)
Sylvia De Brakeleer (6557549)
Ben Caljon (657226)
Ingrid Pauwels (6557552)
Maryse Bonduelle (6557555)
Sofie Joris (6557558)
Christel Fontaine (6557561)
Marian Vanhoeij (6557564)
Sonia Van Dooren (6557567)
Erik Teugels (88625)
Jacques De GrĂ¨ve (5881196)

April 2019

List with PDAVs detected in 54âBC patients located in genes linked to (hereditary) cancer and/or h...

Additional file 2: of Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis

Aparna Prasad (75299)
Matthew Sdano (4978001)
Rena Vanzo (3609362)
Patricia Mowery-Rushton (4978010)
Moises Serrano (4978007)
Charles Hensel (4978004)
E. Wassman (4978013)

March 2018

Clinical Phenotype information for the 53 ROH patients along with CMA findings. (XLSX 17Â kb

Additional file 6: of Systematic evaluation of signal-to-noise ratio in variant detection from single cell genome multiple displacement amplification and exome sequencing

Anita Simonsen (5755358)
Marcus Hansen (5755361)
Eigil Kjeldsen (587943)
Peter MĂ¸ller (5755364)
Johnny HindkjĂŚr (5755367)
Peter Hokland (5755370)
Anni Aggerholm (5755373)

September 2018

Figure S5. Scatter plot of OCI-AML3 chr 13 showing medial q-arm deletion and possible small distal d...

Additional file 6: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Moilanen, Jukka
Veltman, Joris A.
Alenezi, Njood
Netea, Mihai G.
Faqeih, Eissa A.
Al-Hussaini, Abdulrahman A.
Yilmaz, Elanur
Alzahrani, Mofareh S.
Potjewijd, Judith
Keski-Filppula, Riikka
Mensenkamp, Arjen R.
Lelieveld, Stefan H.
Henriet, Stefanie S.
Hoppenreijs, Esther P.
Zafeiropoulou, Dimitra
Alsaad, Alaa B.
Van Well, Gijs T. J.
Almanjomi, Fahad
Alidrissi, Eman
MacKenzie, Marius A.
Lone, Khurram
Gilissen, Christian
Nelen, Marcel
Simon, Anna
Alghamdi, Hamza A.
Arts, Peer
Asery, Ali
Van Paassen, Pieter
Ballourah, Walid
Wagner, Anja
Hortillosa, Sarah
Hoischen, Alexander
Hehir-Kwa, Jayne Y.
Van De Vorst, Maartje
Vreeburg, Maaike
Aljubab, Hadeel A.
Simons, Annet
Stokowy, Tomasz
Zonneveld-Huijssoon, Evelien
Habazi, Murad K.
Kerkhofs, Chantal H.
Gerkes, Erica
Alsaleem, Badr
Ten Oever, Jaap
Van Zelst-Stams, Wendy A. G.
Van De Veerdonk, Frank L.
Van Aerde, Koen J.
Andijani, Abdulrahman A.
Van Deuren, Marcel
Van Der Flier, Michiel
Schuurs-Hoeijmakers, Janneke H. M.
Bleeker-Rovers, Chantal P.
Radboud University Nijmegen Medical Centre
University of Oulu

June 2019

Table S6. Information on all large >â 5-Mb homozygous regions per patient, detected in the exome....

Additional file 3: Table S2. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Garcia-Barceló, Maria-Mercè
Chauhan, Rajendra K.
van den Hout, Mirjam C.G.N.
Sribudiani, Yunia
Chakravarti, Aravinda
Verheij, Johanna
Bleda, Marta
Jalloh, Binta
Berrios, Courtney
Eggen, Bart J.L.
Luzón-Toro, Berta
Cheng, William W.
Matera, Ivana
Pelet, Anna
Ngan, Elly S.W.
Ruiz-Ferrer, Macarena
Tam, Paul K.H.
Gui, Hongsheng
Griseri, Paola
Brouwer, Rutger W.W.
Cherny, Stacey S.
van IJcken, Wilfred F.J.
Brooks, Alice S.
van der Linde, Herma C.
Lyonnet, Stanislas
Schriemer, Duco
Sham, Pak C.
So, Man-Ting
Ceccherini, Isabella
Burns, Alan J.
Tang, Clara S.M.
Amiel, Jeanne
Antiňolo, Guillermo
Borrego, Salud
Shepherd, Iain T.
van Ham, Tjakko J.
Lui, Vincent C.H.
Le, Thuy-Linh
Dopazo, Joaquin
Hofstra, Robert M.W.
Molecular Neuroscience and Ageing Research (MOLAR)
University of Cambridge
Erasmus University Medical Center

March 2017

Quality metrics for sequencing reads and variants from different cohorts. (XLSX 9 kb

Additional file 3: of Achieving high-sensitivity for clinical applications using augmented exome sequencing

Anil Patwardhan (3571589)
Jason Harris (60019)
Nan Leng (3571595)
Gabor Bartha (3549785)
Deanna Church (26684)
Shujun Luo (121977)
Christian Haudenschild (419428)
Mark Pratt (3549773)
Justin Zook (3549770)
Marc Salit (146779)
Jeanie Tirch (3571592)
Massimo Morra (3571604)
Stephen Chervitz (3571586)
Ming Li (91180)
Michael Clark (202666)
Sarah Garcia (570041)
Gemma Chandratillake (3571601)
Scott Kirk (3571598)
Euan Ashley (320536)
Michael Snyder (16695)
Russ Altman (92000)
Carlos Bustamante (58297)
Atul Butte (2581003)
John West (2950008)
Richard Chen (819249)

July 2015

Defines regions of the MIG using chromosomal position information and relevant gene identifiers; the...

Additional file 3: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Kerkhofs, Chantal H.
Keski-Filppula, Riikka
Van Zelst-Stams, Wendy A. G.
Hehir-Kwa, Jayne Y.
Alsaad, Alaa B.
Mensenkamp, Arjen R.
Hoischen, Alexander
Moilanen, Jukka
Hortillosa, Sarah
Zonneveld-Huijssoon, Evelien
Van Deuren, Marcel
Henriet, Stefanie S.
Bleeker-Rovers, Chantal P.
Gilissen, Christian
Stokowy, Tomasz
Hoppenreijs, Esther P.
Alzahrani, Mofareh S.
Veltman, Joris A.
Faqeih, Eissa A.
Lelieveld, Stefan H.
Van Der Flier, Michiel
Van Paassen, Pieter
Alenezi, Njood
Schuurs-Hoeijmakers, Janneke H. M.
Netea, Mihai G.
Van Well, Gijs T. J.
Gerkes, Erica
Vreeburg, Maaike
Al-Hussaini, Abdulrahman A.
Almanjomi, Fahad
Habazi, Murad K.
Ten Oever, Jaap
Andijani, Abdulrahman A.
Ballourah, Walid
Lone, Khurram
Aljubab, Hadeel A.
Arts, Peer
Simons, Annet
Alsaleem, Badr
MacKenzie, Marius A.
Alghamdi, Hamza A.
Wagner, Anja
Van De Veerdonk, Frank L.
Potjewijd, Judith
Nelen, Marcel
Zafeiropoulou, Dimitra
Van Aerde, Koen J.
Asery, Ali
Van De Vorst, Maartje
Alidrissi, Eman
Yilmaz, Elanur
Simon, Anna
Radboud University Nijmegen Medical Centre
University of Oulu

June 2019

Table S3. Variants of unknown significance (class 3) and variants in TRAF3 identified in 17 patients...

Additional file 3: of Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

Avinash Dharmadhikari (5802767)
Rajarshi Ghosh (40694)
Bo Yuan (26238)
Pengfei Liu (136115)
Hongzheng Dai (223656)
Sami Masri (6711875)
Jennifer Scull (6711878)
Jennifer Posey (3422258)
Allen Jiang (6711881)
Weimin He (1446958)
Francesco Vetrini (5802755)
Alicia Braxton (5802746)
Patricia Ward (5802752)
Theodore Chiang (151143)
Chunjing Qu (5802758)
Shen Gu (503795)
Chad Shaw (163990)
Janice Smith (3558284)
Seema Lalani (3572948)
Pawel Stankiewicz (77018)
Sau-Wai Cheung (6711884)
Carlos Bacino (3853051)
Ankita Patel (163987)
Amy Breman (4454002)
Xia Wang (36364)
Linyan Meng (502323)
Rui Xiao (260235)
Fan Xia (219575)
Donna Muzny (54293)
Richard Gibbs (144333)
Arthur Beaudet (544136)
Christine Eng (2633299)
James Lupski (3422270)
Yaping Yang (292220)
Weimin Bi (162353)

May 2019

Supplementary Table S1. Correlation of PCNV findings from CMA and the QC array in 496 ES cases (DOCX...

Additional file 1: of Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series

Jiadi Wen (6431696)
Kathleen Comerford (6431699)
Zhiyong Xu (3987659)
Weiqing Wu (6431702)
Katherine Amato (3511898)
Brittany Grommisch (6431705)
Autumn DiAdamo (6431708)
Fang Xu (138747)
Hongyan Chai (4889599)
Peining Li (1766932)

March 2019

Table S1. PCR primer for selected SNPs. Table S2. Confirmation of SNP calling by PCR/Sequencing. Tab...

Additional file 1: Figure S1. of Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data

Praveen Cherukuri (3492785)
Valerie Maduro (235138)
Karin Fuentes-Fajardo (3552710)
Kevin Lam (1404526)
David Adams (202540)
Cynthia Tifft (202569)
James Mullikin (374795)
William Gahl (3492812)
Cornelius Boerkoel (137810)

November 2015

Systematic approach to study exome capture variability in exome-sequencing (A) Three-generation pedi...

Additional file 3: of An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

Polona Le Quesne Stabej (3725047)
Chela James (3725044)
Louise Ocaka (3725056)
Mehmet Tekman (3725050)
Stephanie Grunewald (1460986)
Emma Clement (3725053)
Horia Stanescu (3725059)
Robert Kleta (56515)
Deborah Morrogh (3725038)
Alistair Calder (3725041)
Hywel Williams (411033)
Maria Bitner-Glindzicz (30310)

February 2017

Non-syndromic hearing loss phenotype - linkage plot showing logarithm of odds (LOD) scores across th...

Additional file 3: Table S3. of Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Patrick Rump (3536780)
Omid Jazayeri (3536789)
Krista van Dijk-Bos (3536774)
Lennart Johansson (3009453)
Anthonie van Essen (3536792)
Johanna Verheij (3536795)
Hermine Veenstra-Knol (3536771)
Egbert Redeker (3536786)
Marcel Mannens (3459431)
Morris Swertz (383290)
Behrooz Alizadeh (3503549)
Conny van Ravenswaaij-Arts (3419003)
Richard Sinke (3536777)
Birgit Sikkema-Raddatz (3536783)

February 2016

Overview of the number of variants detected at each filter step for each patient. (DOC 128 kb

Donavan Cheng (4037918)
Meera Prasad (2583382)
Yvonne Chekaluk (399258)
Ryma Benayed (4037909)
Justyna Sadowska (4037903)
Ahmet Zehir (3857197)
Aijazuddin Syed (4037906)
Yan Wang (15435)
Joshua Somar (3361277)
Yirong Li (144277)
Zarina Yelskaya (587191)
Donna Wong (4037915)
Mark Robson (70145)
Kenneth Offit (63812)
Michael Berger (281817)
Khedoudja Nafa (4037912)
Marc Ladanyi (4470)
Liying Zhang (102453)

May 2017

Allele frequency for non-reproducible false positive variants. Allele frequency (VF â x axis) is p...

Additional file 10: of Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families

Rajendra Shahi (6557546)
Sylvia De Brakeleer (6557549)
Ben Caljon (657226)
Ingrid Pauwels (6557552)
Maryse Bonduelle (6557555)
Sofie Joris (6557558)
Christel Fontaine (6557561)
Marian Vanhoeij (6557564)
Sonia Van Dooren (6557567)
Erik Teugels (88625)
Jacques De GrĂ¨ve (5881196)

April 2019

List with PDAVs detected in 54âBC patients located in genes linked to (hereditary) cancer and/or h...

Additional file 2: of Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis

Aparna Prasad (75299)
Matthew Sdano (4978001)
Rena Vanzo (3609362)
Patricia Mowery-Rushton (4978010)
Moises Serrano (4978007)
Charles Hensel (4978004)
E. Wassman (4978013)

March 2018

Clinical Phenotype information for the 53 ROH patients along with CMA findings. (XLSX 17Â kb

Additional file 6: of Systematic evaluation of signal-to-noise ratio in variant detection from single cell genome multiple displacement amplification and exome sequencing

Anita Simonsen (5755358)
Marcus Hansen (5755361)
Eigil Kjeldsen (587943)
Peter MĂ¸ller (5755364)
Johnny HindkjĂŚr (5755367)
Peter Hokland (5755370)
Anni Aggerholm (5755373)

September 2018

Figure S5. Scatter plot of OCI-AML3 chr 13 showing medial q-arm deletion and possible small distal d...

Additional file 6: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Moilanen, Jukka
Veltman, Joris A.
Alenezi, Njood
Netea, Mihai G.
Faqeih, Eissa A.
Al-Hussaini, Abdulrahman A.
Yilmaz, Elanur
Alzahrani, Mofareh S.
Potjewijd, Judith
Keski-Filppula, Riikka
Mensenkamp, Arjen R.
Lelieveld, Stefan H.
Henriet, Stefanie S.
Hoppenreijs, Esther P.
Zafeiropoulou, Dimitra
Alsaad, Alaa B.
Van Well, Gijs T. J.
Almanjomi, Fahad
Alidrissi, Eman
MacKenzie, Marius A.
Lone, Khurram
Gilissen, Christian
Nelen, Marcel
Simon, Anna
Alghamdi, Hamza A.
Arts, Peer
Asery, Ali
Van Paassen, Pieter
Ballourah, Walid
Wagner, Anja
Hortillosa, Sarah
Hoischen, Alexander
Hehir-Kwa, Jayne Y.
Van De Vorst, Maartje
Vreeburg, Maaike
Aljubab, Hadeel A.
Simons, Annet
Stokowy, Tomasz
Zonneveld-Huijssoon, Evelien
Habazi, Murad K.
Kerkhofs, Chantal H.
Gerkes, Erica
Alsaleem, Badr
Ten Oever, Jaap
Van Zelst-Stams, Wendy A. G.
Van De Veerdonk, Frank L.
Van Aerde, Koen J.
Andijani, Abdulrahman A.
Van Deuren, Marcel
Van Der Flier, Michiel
Schuurs-Hoeijmakers, Janneke H. M.
Bleeker-Rovers, Chantal P.
Radboud University Nijmegen Medical Centre
University of Oulu

June 2019

Table S6. Information on all large >â 5-Mb homozygous regions per patient, detected in the exome....

Additional file 3: Table S2. of Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Garcia-Barceló, Maria-Mercè
Chauhan, Rajendra K.
van den Hout, Mirjam C.G.N.
Sribudiani, Yunia
Chakravarti, Aravinda
Verheij, Johanna
Bleda, Marta
Jalloh, Binta
Berrios, Courtney
Eggen, Bart J.L.
Luzón-Toro, Berta
Cheng, William W.
Matera, Ivana
Pelet, Anna
Ngan, Elly S.W.
Ruiz-Ferrer, Macarena
Tam, Paul K.H.
Gui, Hongsheng
Griseri, Paola
Brouwer, Rutger W.W.
Cherny, Stacey S.
van IJcken, Wilfred F.J.
Brooks, Alice S.
van der Linde, Herma C.
Lyonnet, Stanislas
Schriemer, Duco
Sham, Pak C.
So, Man-Ting
Ceccherini, Isabella
Burns, Alan J.
Tang, Clara S.M.
Amiel, Jeanne
Antiňolo, Guillermo
Borrego, Salud
Shepherd, Iain T.
van Ham, Tjakko J.
Lui, Vincent C.H.
Le, Thuy-Linh
Dopazo, Joaquin
Hofstra, Robert M.W.
Molecular Neuroscience and Ageing Research (MOLAR)
University of Cambridge
Erasmus University Medical Center

March 2017

Quality metrics for sequencing reads and variants from different cohorts. (XLSX 9 kb

Additional file 3: of Achieving high-sensitivity for clinical applications using augmented exome sequencing

Anil Patwardhan (3571589)
Jason Harris (60019)
Nan Leng (3571595)
Gabor Bartha (3549785)
Deanna Church (26684)
Shujun Luo (121977)
Christian Haudenschild (419428)
Mark Pratt (3549773)
Justin Zook (3549770)
Marc Salit (146779)
Jeanie Tirch (3571592)
Massimo Morra (3571604)
Stephen Chervitz (3571586)
Ming Li (91180)
Michael Clark (202666)
Sarah Garcia (570041)
Gemma Chandratillake (3571601)
Scott Kirk (3571598)
Euan Ashley (320536)
Michael Snyder (16695)
Russ Altman (92000)
Carlos Bustamante (58297)
Atul Butte (2581003)
John West (2950008)
Richard Chen (819249)

July 2015

Defines regions of the MIG using chromosomal position information and relevant gene identifiers; the...

Additional file 3: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Kerkhofs, Chantal H.
Keski-Filppula, Riikka
Van Zelst-Stams, Wendy A. G.
Hehir-Kwa, Jayne Y.
Alsaad, Alaa B.
Mensenkamp, Arjen R.
Hoischen, Alexander
Moilanen, Jukka
Hortillosa, Sarah
Zonneveld-Huijssoon, Evelien
Van Deuren, Marcel
Henriet, Stefanie S.
Bleeker-Rovers, Chantal P.
Gilissen, Christian
Stokowy, Tomasz
Hoppenreijs, Esther P.
Alzahrani, Mofareh S.
Veltman, Joris A.
Faqeih, Eissa A.
Lelieveld, Stefan H.
Van Der Flier, Michiel
Van Paassen, Pieter
Alenezi, Njood
Schuurs-Hoeijmakers, Janneke H. M.
Netea, Mihai G.
Van Well, Gijs T. J.
Gerkes, Erica
Vreeburg, Maaike
Al-Hussaini, Abdulrahman A.
Almanjomi, Fahad
Habazi, Murad K.
Ten Oever, Jaap
Andijani, Abdulrahman A.
Ballourah, Walid
Lone, Khurram
Aljubab, Hadeel A.
Arts, Peer
Simons, Annet
Alsaleem, Badr
MacKenzie, Marius A.
Alghamdi, Hamza A.
Wagner, Anja
Van De Veerdonk, Frank L.
Potjewijd, Judith
Nelen, Marcel
Zafeiropoulou, Dimitra
Van Aerde, Koen J.
Asery, Ali
Van De Vorst, Maartje
Alidrissi, Eman
Yilmaz, Elanur
Simon, Anna
Radboud University Nijmegen Medical Centre
University of Oulu

June 2019

Table S3. Variants of unknown significance (class 3) and variants in TRAF3 identified in 17 patients...

Additional file 3: of Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

Avinash Dharmadhikari (5802767)
Rajarshi Ghosh (40694)
Bo Yuan (26238)
Pengfei Liu (136115)
Hongzheng Dai (223656)
Sami Masri (6711875)
Jennifer Scull (6711878)
Jennifer Posey (3422258)
Allen Jiang (6711881)
Weimin He (1446958)
Francesco Vetrini (5802755)
Alicia Braxton (5802746)
Patricia Ward (5802752)
Theodore Chiang (151143)
Chunjing Qu (5802758)
Shen Gu (503795)
Chad Shaw (163990)
Janice Smith (3558284)
Seema Lalani (3572948)
Pawel Stankiewicz (77018)
Sau-Wai Cheung (6711884)
Carlos Bacino (3853051)
Ankita Patel (163987)
Amy Breman (4454002)
Xia Wang (36364)
Linyan Meng (502323)
Rui Xiao (260235)
Fan Xia (219575)
Donna Muzny (54293)
Richard Gibbs (144333)
Arthur Beaudet (544136)
Christine Eng (2633299)
James Lupski (3422270)
Yaping Yang (292220)
Weimin Bi (162353)

May 2019

Supplementary Table S1. Correlation of PCNV findings from CMA and the QC array in 496 ES cases (DOCX...

Jiadi Wen (6431696)
Kathleen Comerford (6431699)
Zhiyong Xu (3987659)
Weiqing Wu (6431702)
Katherine Amato (3511898)
Brittany Grommisch (6431705)
Autumn DiAdamo (6431708)
Fang Xu (138747)
Hongyan Chai (4889599)
Peining Li (1766932)

March 2019

Table S1. PCR primer for selected SNPs. Table S2. Confirmation of SNP calling by PCR/Sequencing. Tab...

Additional file 1: Figure S1. of Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data

Praveen Cherukuri (3492785)
Valerie Maduro (235138)
Karin Fuentes-Fajardo (3552710)
Kevin Lam (1404526)
David Adams (202540)
Cynthia Tifft (202569)
James Mullikin (374795)
William Gahl (3492812)
Cornelius Boerkoel (137810)

November 2015

Systematic approach to study exome capture variability in exome-sequencing (A) Three-generation pedi...

Additional file 3: of An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

Polona Le Quesne Stabej (3725047)
Chela James (3725044)
Louise Ocaka (3725056)
Mehmet Tekman (3725050)
Stephanie Grunewald (1460986)
Emma Clement (3725053)
Horia Stanescu (3725059)
Robert Kleta (56515)
Deborah Morrogh (3725038)
Alistair Calder (3725041)
Hywel Williams (411033)
Maria Bitner-Glindzicz (30310)

February 2017

Non-syndromic hearing loss phenotype - linkage plot showing logarithm of odds (LOD) scores across th...

Additional file 3: Table S3. of Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Patrick Rump (3536780)
Omid Jazayeri (3536789)
Krista van Dijk-Bos (3536774)
Lennart Johansson (3009453)
Anthonie van Essen (3536792)
Johanna Verheij (3536795)
Hermine Veenstra-Knol (3536771)
Egbert Redeker (3536786)
Marcel Mannens (3459431)
Morris Swertz (383290)
Behrooz Alizadeh (3503549)
Conny van Ravenswaaij-Arts (3419003)
Richard Sinke (3536777)
Birgit Sikkema-Raddatz (3536783)

February 2016

Overview of the number of variants detected at each filter step for each patient. (DOC 128 kb

Donavan Cheng (4037918)
Meera Prasad (2583382)
Yvonne Chekaluk (399258)
Ryma Benayed (4037909)
Justyna Sadowska (4037903)
Ahmet Zehir (3857197)
Aijazuddin Syed (4037906)
Yan Wang (15435)
Joshua Somar (3361277)
Yirong Li (144277)
Zarina Yelskaya (587191)
Donna Wong (4037915)
Mark Robson (70145)
Kenneth Offit (63812)
Michael Berger (281817)
Khedoudja Nafa (4037912)
Marc Ladanyi (4470)
Liying Zhang (102453)

May 2017

Allele frequency for non-reproducible false positive variants. Allele frequency (VF â x axis) is p...

Additional file 10: of Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families

Rajendra Shahi (6557546)
Sylvia De Brakeleer (6557549)
Ben Caljon (657226)
Ingrid Pauwels (6557552)
Maryse Bonduelle (6557555)
Sofie Joris (6557558)
Christel Fontaine (6557561)
Marian Vanhoeij (6557564)
Sonia Van Dooren (6557567)
Erik Teugels (88625)
Jacques De GrĂ¨ve (5881196)

April 2019

List with PDAVs detected in 54âBC patients located in genes linked to (hereditary) cancer and/or h...

Additional file 3: of Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis

Abstract

Extracted data

Additional file 3: of Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis

Abstract

Extracted data

Related items

Related items