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Data Protection

Distribution of mutations detected in the primary analysis.

José P. Vaqué (702519)
Nerea Martínez (702520)
Ignacio Varela (702521)
Fidel Fernández (702522)
Marta Mayorga (702523)
Sophia Derdak (642670)
Sergi Beltrán (3214287)
Thaidy Moreno (702524)
Carmen Almaraz (215288)
Gonzalo De las Heras (702525)
Mónica Bayés (3214284)
Ivo Gut (69797)
Javier Crespo (702526)
Miguel A. Piris (161136)

Publication date

March 2015

DOI

10.1371/journal.pone.0119946.g004

Abstract

<p>A). Percentage of the indicated mutations detected in the primary analysis. B) Percentage of mutations in CpG dimers.</p

Extracted data

Related items

The spectrogram of disease-causing genes and mutations in 99 RP patients.

Hui Huang (4122)
Yanhua Chen (1362252)
Huishuang Chen (5088704)
Yuanyuan Ma (280707)
Pei-Wen Chiang (2549791)
Jing Zhong (230059)
Xuyang Liu (310954)
Asan (133835)
Jing Wu (54032)
Yan Su (342071)
Xin Li (51274)
Jianlian Deng (5088698)
Yingping Huang (548732)
Xinxin Zhang (309944)
Yang Li (7082)
Ning Fan (731019)
Ying Wang (11406)
Lihui Tang (5088695)
Jinting Shen (5088707)
Meiyan Chen (1515817)
Xiuqing Zhang (133860)
Deng Te (5088701)
Santasree Banerjee (4815588)
Hui Liu (33624)
Ming Qi (191355)
Xin Yi (180644)

April 2018

<p>The molecular diagnosis statistics of 99 RP patients: A. The percentage of different types of pat...

Mutation frequency of deleterious variants and genes.

Yonghao Liang (3933299)
Peter Ka-Fung Chiu (12514172)
Yao Zhu (441601)
Yim-Ping Wong (13775411)
Qing Xiong (136442)
Lin Wang (11986)
Jeremy Yuen-Chun Teoh (10408316)
Qin Cao (802896)
Yu Wei (365236)
Ding-Wei Ye (104627)
Stephen Kwok-Wing Tsui (9358976)
Chi-Fai Ng (3105801)

September 2022

(A) The number and frequency of each mutation type among 36 deleterious variants. (B) The mutation f...

The distribution of heterozygosity of valid variants after genotyping by sequencing pipeline.

Tiejun Zhang (224265)
Long-Xi Yu (511921)
Ping Zheng (21877)
Yajun Li (240938)
Martha Rivera (800390)
Dorrie Main (4682)
Stephanie L. Greene (615843)

September 2015

<p>The distribution of heterozygosity of valid variants after genotyping by sequencing pipeline.</p

Genotype distribution of the genetic variants investigated, expressed in percentages.

Cristina Ruiz-Iruela (5843936)
Ariadna Padró-Miquel (5843939)
Xavier Pintó-Sala (5843942)
Neus Baena-Díez (5843945)
Assumpta Caixàs-Pedragós (5843948)
Roser Güell-Miró (5843951)
Rosa Navarro-Badal (5843954)
Xavier Jusmet-Miguel (5843957)
Pilar Calmarza (5843960)
José Luis Puzo-Foncilla (5843963)
Pedro Alía-Ramos (5843966)
Beatriz Candás-Estébanez (5843969)

October 2018

Genotype distribution of the genetic variants investigated, expressed in percentages.</p

Percent distribution of monogenic variants identified in genes according to the CH phenotype.

Nina Makretskaya (5778398)
Olga Bezlepkina (5778401)
Anna Kolodkina (5778404)
Alexey Kiyaev (5778407)
Evgeny V. Vasilyev (5778410)
Vasily Petrov (5778413)
Svetlana Kalinenkova (5778416)
Oleg Malievsky (5778419)
Ivan I. Dedov (627515)
Anatoly Tiulpakov (5778422)

September 2018

Percent distribution of monogenic variants identified in genes according to the CH phenotype.</p

Proportion of pathogenic mutations detected in BRCA1/2 and non-BRCA1/2 genes.

Samuel Guan Wei Ow (3204204)
Pei Yi Ong (6470513)
Soo-Chin Lee (132913)

March 2019

Proportion of pathogenic mutations detected in BRCA1/2 and non-BRCA1/2 genes.</p

The Percentage of Cases of MDS and AML Harboring Specific Classes of Genetic Mutations

Jerald Radich (378123)

February 2013

<p>The Percentage of Cases of MDS and AML Harboring Specific Classes of Genetic Mutations</p

Distribution of mutations according to their functional category among the validation cohort.

Mariam Ibáñez (588131)
José Carbonell-Caballero (1888831)
Esperanza Such (588128)
Luz García-Alonso (1888822)
Alessandro Liquori (5843183)
María López-Pavía (588130)
Marta Llop (588132)
Carmen Alonso (375741)
Eva Barragán (588127)
Inés Gómez-Seguí (588126)
Alexander Neef (257267)
David Hervás (457877)
Pau Montesinos (588135)
Guillermo Sanz (3492494)
Miguel Angel Sanz (202855)
Joaquín Dopazo (1888828)
José Cervera (243824)

October 2018

Distribution of mutations according to their functional category among the validation cohort.</p

distribution of the phenotypic abnormalities examined according to the median percentage of BM blasts in cytology.

Suiellen C. Reis-Alves (494223)
Fabíola Traina (5657200)
Guilherme Harada (494224)
Paula M. Campos (494225)
Sara T. O. Saad (494226)
Konradin Metze (349794)
Irene Lorand-Metze (349793)

December 2013

<p>distribution of the phenotypic abnormalities examined according to the median percentage of BM bl...

Distribution of pathogenic mutations reported out in first 3,000 patient samples referred for BRCAplus testing.

Hansook Kim Chong (212938)
Tao Wang (12008)
Hsiao-Mei Lu (258794)
Sara Seidler (564826)
Hong Lu (58784)
Steven Keiles (564827)
Elizabeth C. Chao (61495)
A. J. Stuenkel (564828)
Xiang Li (114679)
Aaron M. Elliott (564829)

May 2014

<p>Distribution of pathogenic mutations reported out in first 3,000 patient samples referred for BRC...

Distribution of the number of mutations according to mutational signatures in HR+/HER2− metastatic and primary (TCGA) breast tumors.

Celine Lefebvre (484956)
Thomas Bachelot (21316)
Thomas Filleron (2183932)
Marion Pedrero (3603569)
Mario Campone (217018)
Jean-Charles Soria (66947)
Christophe Massard (120966)
Christelle Lévy (3603608)
Monica Arnedos (3603575)
Magali Lacroix-Triki (3603599)
Julie Garrabey (3603578)
Yannick Boursin (3603605)
Marc Deloger (3603590)
Yu Fu (16582)
Frédéric Commo (241077)
Véronique Scott (241087)
Ludovic Lacroix (235882)
Maria Vittoria Dieci (3603572)
Maud Kamal (3603581)
Véronique Diéras (3603557)
Anthony Gonçalves (65366)
Jean-Marc Ferrerro (3603596)
Gilles Romieu (8443)
Laurence Vanlemmens (3603584)
Marie-Ange Mouret Reynier (3603563)
Jean-Christophe Théry (3603602)
Fanny Le Du (3603587)
Séverine Guiu (3603593)
Florence Dalenc (15454)
Gilles Clapisson (3603560)
Hervé Bonnefoi (32878)
Marta Jimenez (3603566)
Christophe Le Tourneau (294402)
Fabrice André (1389063)

December 2016

<p>Distribution of the number of mutations according to mutational signatures in HR+/HER2− metastati...

Distribution of silent mutation and polymorphism among the studied population.

Danny Xuan-Rong Koh (17621693)
Mohamed Afiq Hidayat Zailani (13751479)
Raja Zahratul Azma Raja Sabudin (13751482)
Sanggari Muniandy (17621696)
Nur Awatif Akmal Muhamad Hata (17621699)
Siti Noor Baya Mohd Noor (17621702)
Norhazilah Zakaria (17621705)
Ainoon Othman (17621708)
Endom Ismail (2623108)

December 2023

Distribution of silent mutation and polymorphism among the studied population.</p

A: The number of mutations/mutation candidates indicating that the majority of the responsible gene mutations are accumulated in particular major causative genes.

Maiko Miyagawa (311859)
Takehiko Naito (415155)
Shin-ya Nishio (181068)
Naoyuki Kamatani (936)
Shin-ichi Usami (181067)

August 2013

<p>B: The number of mutations/mutation candidates in the early-onset group. C: The number of mutatio...

Area propensities of mutations by accessibility.

Octavio Espinosa (220816)
Konstantinos Mitsopoulos (509736)
Jarle Hakas (215012)
Frances Pearl (57486)
Marketa Zvelebil (13881)

January 2014

<p>For each area, the percentages denote the relative ASA. Ratios denote the driver/neutral fraction...

The proportion of each pair classified by number of mutations.

Mari Tohya (3151347)
Takayasu Watanabe (221877)
Fumito Maruyama (221882)
Sakura Arai (3151350)
Atsushi Ota (3151353)
Taryn B. T. Athey (796697)
Nahuel Fittipaldi (135592)
Ichiro Nakagawa (189496)
Tsutomu Sekizaki (255160)

July 2016

<p>The number of mutations was calculated in each of 26 pairs, and its distribution is shown in ST1 ...

The spectrogram of disease-causing genes and mutations in 99 RP patients.

Hui Huang (4122)
Yanhua Chen (1362252)
Huishuang Chen (5088704)
Yuanyuan Ma (280707)
Pei-Wen Chiang (2549791)
Jing Zhong (230059)
Xuyang Liu (310954)
Asan (133835)
Jing Wu (54032)
Yan Su (342071)
Xin Li (51274)
Jianlian Deng (5088698)
Yingping Huang (548732)
Xinxin Zhang (309944)
Yang Li (7082)
Ning Fan (731019)
Ying Wang (11406)
Lihui Tang (5088695)
Jinting Shen (5088707)
Meiyan Chen (1515817)
Xiuqing Zhang (133860)
Deng Te (5088701)
Santasree Banerjee (4815588)
Hui Liu (33624)
Ming Qi (191355)
Xin Yi (180644)

April 2018

<p>The molecular diagnosis statistics of 99 RP patients: A. The percentage of different types of pat...

Mutation frequency of deleterious variants and genes.

Yonghao Liang (3933299)
Peter Ka-Fung Chiu (12514172)
Yao Zhu (441601)
Yim-Ping Wong (13775411)
Qing Xiong (136442)
Lin Wang (11986)
Jeremy Yuen-Chun Teoh (10408316)
Qin Cao (802896)
Yu Wei (365236)
Ding-Wei Ye (104627)
Stephen Kwok-Wing Tsui (9358976)
Chi-Fai Ng (3105801)

September 2022

(A) The number and frequency of each mutation type among 36 deleterious variants. (B) The mutation f...

The distribution of heterozygosity of valid variants after genotyping by sequencing pipeline.

Tiejun Zhang (224265)
Long-Xi Yu (511921)
Ping Zheng (21877)
Yajun Li (240938)
Martha Rivera (800390)
Dorrie Main (4682)
Stephanie L. Greene (615843)

September 2015

<p>The distribution of heterozygosity of valid variants after genotyping by sequencing pipeline.</p

Genotype distribution of the genetic variants investigated, expressed in percentages.

Cristina Ruiz-Iruela (5843936)
Ariadna Padró-Miquel (5843939)
Xavier Pintó-Sala (5843942)
Neus Baena-Díez (5843945)
Assumpta Caixàs-Pedragós (5843948)
Roser Güell-Miró (5843951)
Rosa Navarro-Badal (5843954)
Xavier Jusmet-Miguel (5843957)
Pilar Calmarza (5843960)
José Luis Puzo-Foncilla (5843963)
Pedro Alía-Ramos (5843966)
Beatriz Candás-Estébanez (5843969)

October 2018

Genotype distribution of the genetic variants investigated, expressed in percentages.</p

Percent distribution of monogenic variants identified in genes according to the CH phenotype.

Nina Makretskaya (5778398)
Olga Bezlepkina (5778401)
Anna Kolodkina (5778404)
Alexey Kiyaev (5778407)
Evgeny V. Vasilyev (5778410)
Vasily Petrov (5778413)
Svetlana Kalinenkova (5778416)
Oleg Malievsky (5778419)
Ivan I. Dedov (627515)
Anatoly Tiulpakov (5778422)

September 2018

Percent distribution of monogenic variants identified in genes according to the CH phenotype.</p

Proportion of pathogenic mutations detected in BRCA1/2 and non-BRCA1/2 genes.

Samuel Guan Wei Ow (3204204)
Pei Yi Ong (6470513)
Soo-Chin Lee (132913)

March 2019

Proportion of pathogenic mutations detected in BRCA1/2 and non-BRCA1/2 genes.</p

The Percentage of Cases of MDS and AML Harboring Specific Classes of Genetic Mutations

Jerald Radich (378123)

February 2013

<p>The Percentage of Cases of MDS and AML Harboring Specific Classes of Genetic Mutations</p

Distribution of mutations according to their functional category among the validation cohort.

Mariam Ibáñez (588131)
José Carbonell-Caballero (1888831)
Esperanza Such (588128)
Luz García-Alonso (1888822)
Alessandro Liquori (5843183)
María López-Pavía (588130)
Marta Llop (588132)
Carmen Alonso (375741)
Eva Barragán (588127)
Inés Gómez-Seguí (588126)
Alexander Neef (257267)
David Hervás (457877)
Pau Montesinos (588135)
Guillermo Sanz (3492494)
Miguel Angel Sanz (202855)
Joaquín Dopazo (1888828)
José Cervera (243824)

October 2018

Distribution of mutations according to their functional category among the validation cohort.</p

distribution of the phenotypic abnormalities examined according to the median percentage of BM blasts in cytology.

Suiellen C. Reis-Alves (494223)
Fabíola Traina (5657200)
Guilherme Harada (494224)
Paula M. Campos (494225)
Sara T. O. Saad (494226)
Konradin Metze (349794)
Irene Lorand-Metze (349793)

December 2013

<p>distribution of the phenotypic abnormalities examined according to the median percentage of BM bl...

Distribution of pathogenic mutations reported out in first 3,000 patient samples referred for BRCAplus testing.

Hansook Kim Chong (212938)
Tao Wang (12008)
Hsiao-Mei Lu (258794)
Sara Seidler (564826)
Hong Lu (58784)
Steven Keiles (564827)
Elizabeth C. Chao (61495)
A. J. Stuenkel (564828)
Xiang Li (114679)
Aaron M. Elliott (564829)

May 2014

<p>Distribution of pathogenic mutations reported out in first 3,000 patient samples referred for BRC...

Distribution of the number of mutations according to mutational signatures in HR+/HER2− metastatic and primary (TCGA) breast tumors.

Celine Lefebvre (484956)
Thomas Bachelot (21316)
Thomas Filleron (2183932)
Marion Pedrero (3603569)
Mario Campone (217018)
Jean-Charles Soria (66947)
Christophe Massard (120966)
Christelle Lévy (3603608)
Monica Arnedos (3603575)
Magali Lacroix-Triki (3603599)
Julie Garrabey (3603578)
Yannick Boursin (3603605)
Marc Deloger (3603590)
Yu Fu (16582)
Frédéric Commo (241077)
Véronique Scott (241087)
Ludovic Lacroix (235882)
Maria Vittoria Dieci (3603572)
Maud Kamal (3603581)
Véronique Diéras (3603557)
Anthony Gonçalves (65366)
Jean-Marc Ferrerro (3603596)
Gilles Romieu (8443)
Laurence Vanlemmens (3603584)
Marie-Ange Mouret Reynier (3603563)
Jean-Christophe Théry (3603602)
Fanny Le Du (3603587)
Séverine Guiu (3603593)
Florence Dalenc (15454)
Gilles Clapisson (3603560)
Hervé Bonnefoi (32878)
Marta Jimenez (3603566)
Christophe Le Tourneau (294402)
Fabrice André (1389063)

December 2016

<p>Distribution of the number of mutations according to mutational signatures in HR+/HER2− metastati...

Distribution of silent mutation and polymorphism among the studied population.

Danny Xuan-Rong Koh (17621693)
Mohamed Afiq Hidayat Zailani (13751479)
Raja Zahratul Azma Raja Sabudin (13751482)
Sanggari Muniandy (17621696)
Nur Awatif Akmal Muhamad Hata (17621699)
Siti Noor Baya Mohd Noor (17621702)
Norhazilah Zakaria (17621705)
Ainoon Othman (17621708)
Endom Ismail (2623108)

December 2023

Distribution of silent mutation and polymorphism among the studied population.</p

A: The number of mutations/mutation candidates indicating that the majority of the responsible gene mutations are accumulated in particular major causative genes.

Maiko Miyagawa (311859)
Takehiko Naito (415155)
Shin-ya Nishio (181068)
Naoyuki Kamatani (936)
Shin-ichi Usami (181067)

August 2013

<p>B: The number of mutations/mutation candidates in the early-onset group. C: The number of mutatio...

Area propensities of mutations by accessibility.

Octavio Espinosa (220816)
Konstantinos Mitsopoulos (509736)
Jarle Hakas (215012)
Frances Pearl (57486)
Marketa Zvelebil (13881)

January 2014

<p>For each area, the percentages denote the relative ASA. Ratios denote the driver/neutral fraction...

The proportion of each pair classified by number of mutations.

Mari Tohya (3151347)
Takayasu Watanabe (221877)
Fumito Maruyama (221882)
Sakura Arai (3151350)
Atsushi Ota (3151353)
Taryn B. T. Athey (796697)
Nahuel Fittipaldi (135592)
Ichiro Nakagawa (189496)
Tsutomu Sekizaki (255160)

July 2016

<p>The number of mutations was calculated in each of 26 pairs, and its distribution is shown in ST1 ...

The spectrogram of disease-causing genes and mutations in 99 RP patients.

Hui Huang (4122)
Yanhua Chen (1362252)
Huishuang Chen (5088704)
Yuanyuan Ma (280707)
Pei-Wen Chiang (2549791)
Jing Zhong (230059)
Xuyang Liu (310954)
Asan (133835)
Jing Wu (54032)
Yan Su (342071)
Xin Li (51274)
Jianlian Deng (5088698)
Yingping Huang (548732)
Xinxin Zhang (309944)
Yang Li (7082)
Ning Fan (731019)
Ying Wang (11406)
Lihui Tang (5088695)
Jinting Shen (5088707)
Meiyan Chen (1515817)
Xiuqing Zhang (133860)
Deng Te (5088701)
Santasree Banerjee (4815588)
Hui Liu (33624)
Ming Qi (191355)
Xin Yi (180644)

April 2018

<p>The molecular diagnosis statistics of 99 RP patients: A. The percentage of different types of pat...

Mutation frequency of deleterious variants and genes.

Yonghao Liang (3933299)
Peter Ka-Fung Chiu (12514172)
Yao Zhu (441601)
Yim-Ping Wong (13775411)
Qing Xiong (136442)
Lin Wang (11986)
Jeremy Yuen-Chun Teoh (10408316)
Qin Cao (802896)
Yu Wei (365236)
Ding-Wei Ye (104627)
Stephen Kwok-Wing Tsui (9358976)
Chi-Fai Ng (3105801)

September 2022

(A) The number and frequency of each mutation type among 36 deleterious variants. (B) The mutation f...

The distribution of heterozygosity of valid variants after genotyping by sequencing pipeline.

Tiejun Zhang (224265)
Long-Xi Yu (511921)
Ping Zheng (21877)
Yajun Li (240938)
Martha Rivera (800390)
Dorrie Main (4682)
Stephanie L. Greene (615843)

September 2015

<p>The distribution of heterozygosity of valid variants after genotyping by sequencing pipeline.</p