Summary of identified variants using BWA+ GATK.

Summary of five candidate variants with a consistent inheritance pattern detected by whole exome sequencing analyses.

Hyun-Seok Jin (781848)
Jeonhyun Kim (3632980)
Woori Kwak (425016)
Hyeonsoo Jeong (3460376)
Gyu-Bin Lim (3632977)
Cha Gon Lee (3632983)

January 2017

Summary of five candidate variants with a consistent inheritance pattern detected by whole exome ...

Comparison between the number of variants detected with the MPS and Sanger sequencing technologies.

Kim Vancampenhout (657225)
Ben Caljon (657226)
Claudia Spits (657227)
Katrien Stouffs (657228)
An Jonckheere (657229)
Linda De Meirleir (657230)
Willy Lissens (657231)
Arnaud Vanlander (657232)
Joél Smet (4775175)
Boel De Paepe (657233)
Rudy Van Coster (56848)
Sara Seneca (657234)

November 2014

FN: false negative result, extra: additional low allele frequency variants identified compared to...

Imputation of Variants from the 1000 Genomes Project Modestly Improves Known Associations and Can Identify Low-frequency Variant- Phenotype Associations Undetected by HapMap Based Imputation

Andrew R. Wood
John R. B. Perry
Toshiko Tanaka
Dena G. Hern
Hou-feng Zheng
David Melzer
J. Raphael Gibbs
Michael A. Nalls
Michael N. Weedon
Tim D. Spector
J. Brent Richards
Stefania B
Luigi Ferrucci
Andrew B. Singleton
Timothy M. Frayling

August 2016

Genome-wide association (GWA) studies have been limited by the reliance on common variants present o...

Summary of identified exonic variants using BWA+GATK.

Wazim Mohammed Ismail (6103121)
Kymberleigh A. Pagel (3088803)
Vikas Pejaver (1478455)
Simo V. Zhang (6103124)
Sofia Casasa (4472311)
Matthew Mort (673246)
David N. Cooper (17051)
Matthew W. Hahn (201344)
Predrag Radivojac (19890)

December 2018

Variants not present in gnomAD [66] are listed as novel and variants identified by all four platform...

Number of common variants produced by different pipelines given identical input.

Giovanni Delussu (3392198)
Luca Lianas (3392201)
Francesca Frexia (3224889)
Gianluigi Zanetti (10083)

December 2016

In the Figure, the underlined text indicates the versions of: the Burrows-Wheeler Aligner(BWA), t...

Current and suggested GWAS approaches.

Christine Queitsch (32607)
Keisha D. Carlson (298516)
Santhosh Girirajan (162364)

February 2013

(A) Current approach. GWAS identify variants that are overrepresented in cases. Rare variants of ...

List of genes and the number of variants in the highly variable regions of SNVs and InDels.

Woori Kwak (425016)
Ki-Duk Song (673013)
Jae-Don Oh (592120)
Kang-Nyeong Heo (673014)
Jun-Heon Lee (85882)
Woon Kyu Lee (673015)
Sook Hee Yoon (673016)
Heebal Kim (9991)
Seoae Cho (75685)
Hak-Kyo Lee (540982)

December 2014

The number of variants was based on the result of multi-sample calling from GATK.List of g...

John E. Mullet

September 2016

Recent advances in variant calling made available in the Genome Analysis Toolkit (GATK) enable the u...

Workflow and annotation pipeline for the identification of candidate variants.

Chun-Chi Lai (496553)
Yung-Hsin Yeh (496554)
Wen-Ping Hsieh (48121)
Chi-Tai Kuo (451419)
Wen-Ching Wang (124934)
Chia-Han Chu (124931)
Chiu-Lien Hung (419104)
Chia-Yang Cheng (496555)
Hsin-Yi Tsai (496556)
Jia-Lin Lee (496557)
Chuan-Yi Tang (72392)
Lung-An Hsu (496558)

December 2013

(A) Workflow for finding candidate variants. (B) The number of SNV and Indel varian...

Germline Short Variant Discovery and Annotation Pipeline using GATK Tool

Ashraf Bourawy
Abdalmunam Abdalla

August 2023

Background and aims. Identifying of variants related to genetic diseases has become affordable with ...

Comprehensive analysis to improve the validation rate for single nucleotide variants detected by next-generation sequencing.

Mi-Hyun Park
Hwanseok Rhee
Jung Hoon Park
Hae-Mi Woo
Byung-Ok Choi
Bo-Young Kim
Ki Wha Chung
Yoo-Bok Cho
Hyung Jin Kim
Ji-Won Jung
Soo Kyung Koo

Next-generation sequencing (NGS) has enabled the high-throughput discovery of germline and somatic m...

MOESM6 of Accurate sequence variant genotyping in cattle using variation-aware genome graphs

Danang Crysnanto (6682967)
Christine Wurmser (151766)
Hubert Pausch (151770)

May 2019

Additional file 6. Comparison of variant filtration using either GATK hard filtering or GATK VQSR

List of variants in recent GWAS showing evidence of a difference in effect between populations.

Samuel P. Dickson (242256)
Kai Wang (21246)
Ian Krantz (264398)
Hakon Hakonarson (102913)
David B. Goldstein (194563)

February 2013

Included are 13 variants and odds ratios with confidence intervals for the population in which as...

Comprehensive Analysis to Improve the Validation Rate for Single Nucleotide Variants Detected by Next- Generation Sequencing

Wha Chung
Yoo-bok Cho
Hyung Jin Kim
Ji-won Jung
Soo Kyung Koo

January 2013

Next-generation sequencing (NGS) has enabled the high-throughput discovery of germline and somatic m...

Genome sequencing results.

Klaus Rieneck (392917)
Karen Koefoed Rasmussen (17262738)
Erwin M. Schoof (1814932)
Frederik Banch Clausen (11657806)
Henrietta Holze (14253947)
Thomas Bergholt (558712)
Marianne Hørby Jørgensen (17262741)
Vibeke Brix Christensen (17262744)
Runar Almaas (17070973)
Peter Lüttge Jordal (17262747)
Marie Locard-Paulet (8250063)
Kasper Runager (1342683)
Leif Kofoed Nielsen (14675947)
Balthasar Clemens Schlotmann (17262750)
Joachim Lütken Weischenfeldt (17262753)
Lars Juhl Jensen (850)
Morten Hanefeld Dziegiel (17262756)

October 2023

Showing homozygous variants found in 26 GW with an allele frequency of less than 10%. The instances ...

Summary of five candidate variants with a consistent inheritance pattern detected by whole exome sequencing analyses.

Hyun-Seok Jin (781848)
Jeonhyun Kim (3632980)
Woori Kwak (425016)
Hyeonsoo Jeong (3460376)
Gyu-Bin Lim (3632977)
Cha Gon Lee (3632983)

January 2017

Summary of five candidate variants with a consistent inheritance pattern detected by whole exome ...

Comparison between the number of variants detected with the MPS and Sanger sequencing technologies.

Kim Vancampenhout (657225)
Ben Caljon (657226)
Claudia Spits (657227)
Katrien Stouffs (657228)
An Jonckheere (657229)
Linda De Meirleir (657230)
Willy Lissens (657231)
Arnaud Vanlander (657232)
Joél Smet (4775175)
Boel De Paepe (657233)
Rudy Van Coster (56848)
Sara Seneca (657234)

November 2014

FN: false negative result, extra: additional low allele frequency variants identified compared to...

Imputation of Variants from the 1000 Genomes Project Modestly Improves Known Associations and Can Identify Low-frequency Variant- Phenotype Associations Undetected by HapMap Based Imputation

Andrew R. Wood
John R. B. Perry
Toshiko Tanaka
Dena G. Hern
Hou-feng Zheng
David Melzer
J. Raphael Gibbs
Michael A. Nalls
Michael N. Weedon
Tim D. Spector
J. Brent Richards
Stefania B
Luigi Ferrucci
Andrew B. Singleton
Timothy M. Frayling

August 2016

Genome-wide association (GWA) studies have been limited by the reliance on common variants present o...

Summary of identified exonic variants using BWA+GATK.

Wazim Mohammed Ismail (6103121)
Kymberleigh A. Pagel (3088803)
Vikas Pejaver (1478455)
Simo V. Zhang (6103124)
Sofia Casasa (4472311)
Matthew Mort (673246)
David N. Cooper (17051)
Matthew W. Hahn (201344)
Predrag Radivojac (19890)

December 2018

Variants not present in gnomAD [66] are listed as novel and variants identified by all four platform...

Number of common variants produced by different pipelines given identical input.

Giovanni Delussu (3392198)
Luca Lianas (3392201)
Francesca Frexia (3224889)
Gianluigi Zanetti (10083)

December 2016

In the Figure, the underlined text indicates the versions of: the Burrows-Wheeler Aligner(BWA), t...

Current and suggested GWAS approaches.

Christine Queitsch (32607)
Keisha D. Carlson (298516)
Santhosh Girirajan (162364)

February 2013

(A) Current approach. GWAS identify variants that are overrepresented in cases. Rare variants of ...

List of genes and the number of variants in the highly variable regions of SNVs and InDels.

Woori Kwak (425016)
Ki-Duk Song (673013)
Jae-Don Oh (592120)
Kang-Nyeong Heo (673014)
Jun-Heon Lee (85882)
Woon Kyu Lee (673015)
Sook Hee Yoon (673016)
Heebal Kim (9991)
Seoae Cho (75685)
Hak-Kyo Lee (540982)

December 2014

The number of variants was based on the result of multi-sample calling from GATK.List of g...

John E. Mullet

September 2016

Recent advances in variant calling made available in the Genome Analysis Toolkit (GATK) enable the u...

Workflow and annotation pipeline for the identification of candidate variants.

Chun-Chi Lai (496553)
Yung-Hsin Yeh (496554)
Wen-Ping Hsieh (48121)
Chi-Tai Kuo (451419)
Wen-Ching Wang (124934)
Chia-Han Chu (124931)
Chiu-Lien Hung (419104)
Chia-Yang Cheng (496555)
Hsin-Yi Tsai (496556)
Jia-Lin Lee (496557)
Chuan-Yi Tang (72392)
Lung-An Hsu (496558)

December 2013

(A) Workflow for finding candidate variants. (B) The number of SNV and Indel varian...

Germline Short Variant Discovery and Annotation Pipeline using GATK Tool

Ashraf Bourawy
Abdalmunam Abdalla

August 2023

Background and aims. Identifying of variants related to genetic diseases has become affordable with ...

Comprehensive analysis to improve the validation rate for single nucleotide variants detected by next-generation sequencing.

Mi-Hyun Park
Hwanseok Rhee
Jung Hoon Park
Hae-Mi Woo
Byung-Ok Choi
Bo-Young Kim
Ki Wha Chung
Yoo-Bok Cho
Hyung Jin Kim
Ji-Won Jung
Soo Kyung Koo

Next-generation sequencing (NGS) has enabled the high-throughput discovery of germline and somatic m...

MOESM6 of Accurate sequence variant genotyping in cattle using variation-aware genome graphs

Danang Crysnanto (6682967)
Christine Wurmser (151766)
Hubert Pausch (151770)

May 2019

Additional file 6. Comparison of variant filtration using either GATK hard filtering or GATK VQSR

List of variants in recent GWAS showing evidence of a difference in effect between populations.

Samuel P. Dickson (242256)
Kai Wang (21246)
Ian Krantz (264398)
Hakon Hakonarson (102913)
David B. Goldstein (194563)

February 2013

Included are 13 variants and odds ratios with confidence intervals for the population in which as...

Comprehensive Analysis to Improve the Validation Rate for Single Nucleotide Variants Detected by Next- Generation Sequencing

Wha Chung
Yoo-bok Cho
Hyung Jin Kim
Ji-won Jung
Soo Kyung Koo

January 2013

Next-generation sequencing (NGS) has enabled the high-throughput discovery of germline and somatic m...

Genome sequencing results.

Klaus Rieneck (392917)
Karen Koefoed Rasmussen (17262738)
Erwin M. Schoof (1814932)
Frederik Banch Clausen (11657806)
Henrietta Holze (14253947)
Thomas Bergholt (558712)
Marianne Hørby Jørgensen (17262741)
Vibeke Brix Christensen (17262744)
Runar Almaas (17070973)
Peter Lüttge Jordal (17262747)
Marie Locard-Paulet (8250063)
Kasper Runager (1342683)
Leif Kofoed Nielsen (14675947)
Balthasar Clemens Schlotmann (17262750)
Joachim Lütken Weischenfeldt (17262753)
Lars Juhl Jensen (850)
Morten Hanefeld Dziegiel (17262756)

October 2023

Showing homozygous variants found in 26 GW with an allele frequency of less than 10%. The instances ...

Summary of five candidate variants with a consistent inheritance pattern detected by whole exome sequencing analyses.

Hyun-Seok Jin (781848)
Jeonhyun Kim (3632980)
Woori Kwak (425016)
Hyeonsoo Jeong (3460376)
Gyu-Bin Lim (3632977)
Cha Gon Lee (3632983)

January 2017

Summary of five candidate variants with a consistent inheritance pattern detected by whole exome ...

Comparison between the number of variants detected with the MPS and Sanger sequencing technologies.

Kim Vancampenhout (657225)
Ben Caljon (657226)
Claudia Spits (657227)
Katrien Stouffs (657228)
An Jonckheere (657229)
Linda De Meirleir (657230)
Willy Lissens (657231)
Arnaud Vanlander (657232)
Joél Smet (4775175)
Boel De Paepe (657233)
Rudy Van Coster (56848)
Sara Seneca (657234)

November 2014

FN: false negative result, extra: additional low allele frequency variants identified compared to...

Imputation of Variants from the 1000 Genomes Project Modestly Improves Known Associations and Can Identify Low-frequency Variant- Phenotype Associations Undetected by HapMap Based Imputation

Andrew R. Wood
John R. B. Perry
Toshiko Tanaka
Dena G. Hern
Hou-feng Zheng
David Melzer
J. Raphael Gibbs
Michael A. Nalls
Michael N. Weedon
Tim D. Spector
J. Brent Richards
Stefania B
Luigi Ferrucci
Andrew B. Singleton
Timothy M. Frayling

August 2016

Genome-wide association (GWA) studies have been limited by the reliance on common variants present o...

Summary of identified variants using BWA+ GATK.

Abstract

Extracted data

Summary of identified variants using BWA+ GATK.

Abstract

Extracted data

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