The number of variants subsetted from two datasets within the coordinates of our genes-sets of CVDs.

CNVs and genetic medicine (excitement and consequences of a rediscovery)

Beckmann, J. S.
Sharp, A. J.
Antonarakis, Stylianos

January 2008

The extensive variability of individual human genomes contributes to phenotypic variability. Structu...

Proportions of individuals with pathogenic SNVs in the study cohort, compared with the corresponding proportions of the same variants in ExAC NFE and SweGen.

Ellika Sahlin (507944)
Anna Gréen (6180506)
Peter Gustavsson (118726)
Agne Liedén (118589)
Magnus Nordenskjöld (118610)
Nikos Papadogiannakis (507943)
Karin Pettersson (2510647)
Daniel Nilsson (29307)
Jon Jonasson (495667)
Erik Iwarsson (507949)

January 2019

Proportions of individuals with pathogenic SNVs in the study cohort, compared with the corresponding...

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.

Soemedi, R
Wilson, IJ
Bentham, J
Darlay, R
Töpf, A
Zelenika, D
Cosgrove, C
Setchfield, K
Thornborough, C
Granados-Riveron, J
Blue, GM
Breckpot, J
Hellens, S
Zwolinkski, S
Glen, E
Mamasoula, C
Rahman, TJ
Hall, D
Rauch, A
Devriendt, K
Gewillig, M
O' Sullivan, J
Winlaw, DS
Bu'Lock, F
Brook, JD
Bhattacharya, S
Lathrop, M
Santibanez-Koref, M
Cordell, HJ
Goodship, JA
Keavney, BD

September 2012

Previous studies have shown that copy-number variants (CNVs) contribute to the risk of complex devel...

Venn-diagram indicating the number of SNVs predicted as deleterious by SIFT, Polyphen-2, and CADD in genes associated with cardiovascular diseases in this study.

Muhammad Shakeel (509491)
Muhammad Irfan (255476)
Ishtiaq Ahmad Khan (4840206)

February 2018

Considering the phred-like (scaled) score of 15 as deleterious, CADD predicts highest number of v...

A computational pipeline for identifying copy number variation from single nucleotide polymorphism data and applications to congenital heart disease

Kim, Daniel Seung

March 2016

Thesis (Master's)--University of Washington, 2016-03Copy number variants (CNVs) are duplications or ...

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Craddock, Nick
Hurles, Matthew
Cardin, Niall
Pearson, Richard
Plagnol, Vincent
Robson, Samuel
Vukcevic, Damjan
Barnes, Chris
Conrad, Donald
Giannoulatou, Eleni
Brown, Matthew
other, and

January 2010

Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have be...

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease

Soemedi, Rachel
Wilson, Ian J
Bentham, Jamie
Darlay, Rebecca
Töpf, Ana
Zelenika, Diana
Cosgrove, Catherine
Setchfield, Kerry
Thornborough, Chris
Granados-Riveron, Javier
Blue, Gillian M
Breckpot, Jeroen
Hellens, Stephen
Zwolinkski, Simon
Glen, Elise
Mamasoula, Chrysovalanto
Rahman, Thahira J
Hall, Darroch
Rauch, Anita
Devriendt, Koenraad
Gewillig, Marc
O' Sullivan, John
Winlaw, David S
Bu'lock, Frances
Brook, J David
Bhattacharya, Shoumo
Lathrop, Mark
Santibanez-Koref, Mauro
Cordell, Heather J
Goodship, Judith A
Keavney, Bernard D

September 2012

Previous studies have shown that copy-number variants (CNVs) contribute to the risk of complex devel...

ClinVar’s Pathogenic and Likely pathogenic variants associated with CVDs having significantly higher percent allele frequency in SAS than in other populations.

Muhammad Shakeel (509491)
Muhammad Irfan (255476)
Ishtiaq Ahmad Khan (4840206)

February 2018

ClinVar’s Pathogenic and Likely pathogenic variants associated with CVDs having significantly hig...

Copy Number Variation.

Macé, A.
Kutalik, Z.
Valsesia, A.

January 2018

Differences between genomes can be due to single nucleotide variants (SNPs), translocations, inversi...

Allele frequency spectrum (AFS) of all and deleterious SNVs in genes related to CVDs.

Muhammad Shakeel (509491)
Muhammad Irfan (255476)
Ishtiaq Ahmad Khan (4840206)

February 2018

A. All SNVs in 1000 Genomes PJL, B. Deleterious SNVs in 1000 Genomes PJL. C....

CNVs and genetic medicine (excitement and consequences of a rediscovery).

Beckmann, J.S.
Sharp, A.J.
Antonarakis, S.E.

January 2008

The extensive variability of individual human genomes contributes to phenotypic variability. Structu...

Human genes in pathogenic CNVs are dosage-sensitive and have constrained evolutionary copy number

Alan Rice (389291)
Aoife McLysaght (118491)

June 2016

<div>Human genes in pathogenic CNVs are dosage-sensitive and have constrained evolutionary copy n...

CNVs and genetic medicine (excitement and consequences of a rediscovery)

Beckmann, J. S.
Sharp, A. J.
Antonarakis, Stylianos

January 2008

The extensive variability of individual human genomes contributes to phenotypic variability. Structu...

Proportions of individuals with pathogenic SNVs in the study cohort, compared with the corresponding proportions of the same variants in ExAC NFE and SweGen.

Ellika Sahlin (507944)
Anna Gréen (6180506)
Peter Gustavsson (118726)
Agne Liedén (118589)
Magnus Nordenskjöld (118610)
Nikos Papadogiannakis (507943)
Karin Pettersson (2510647)
Daniel Nilsson (29307)
Jon Jonasson (495667)
Erik Iwarsson (507949)

January 2019

Proportions of individuals with pathogenic SNVs in the study cohort, compared with the corresponding...

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.

Soemedi, R
Wilson, IJ
Bentham, J
Darlay, R
Töpf, A
Zelenika, D
Cosgrove, C
Setchfield, K
Thornborough, C
Granados-Riveron, J
Blue, GM
Breckpot, J
Hellens, S
Zwolinkski, S
Glen, E
Mamasoula, C
Rahman, TJ
Hall, D
Rauch, A
Devriendt, K
Gewillig, M
O' Sullivan, J
Winlaw, DS
Bu'Lock, F
Brook, JD
Bhattacharya, S
Lathrop, M
Santibanez-Koref, M
Cordell, HJ
Goodship, JA
Keavney, BD

September 2012

Previous studies have shown that copy-number variants (CNVs) contribute to the risk of complex devel...

Venn-diagram indicating the number of SNVs predicted as deleterious by SIFT, Polyphen-2, and CADD in genes associated with cardiovascular diseases in this study.

Muhammad Shakeel (509491)
Muhammad Irfan (255476)
Ishtiaq Ahmad Khan (4840206)

February 2018

Considering the phred-like (scaled) score of 15 as deleterious, CADD predicts highest number of v...

A computational pipeline for identifying copy number variation from single nucleotide polymorphism data and applications to congenital heart disease

Kim, Daniel Seung

March 2016

Thesis (Master's)--University of Washington, 2016-03Copy number variants (CNVs) are duplications or ...

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Craddock, Nick
Hurles, Matthew
Cardin, Niall
Pearson, Richard
Plagnol, Vincent
Robson, Samuel
Vukcevic, Damjan
Barnes, Chris
Conrad, Donald
Giannoulatou, Eleni
Brown, Matthew
other, and

January 2010

Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have be...

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease

Soemedi, Rachel
Wilson, Ian J
Bentham, Jamie
Darlay, Rebecca
Töpf, Ana
Zelenika, Diana
Cosgrove, Catherine
Setchfield, Kerry
Thornborough, Chris
Granados-Riveron, Javier
Blue, Gillian M
Breckpot, Jeroen
Hellens, Stephen
Zwolinkski, Simon
Glen, Elise
Mamasoula, Chrysovalanto
Rahman, Thahira J
Hall, Darroch
Rauch, Anita
Devriendt, Koenraad
Gewillig, Marc
O' Sullivan, John
Winlaw, David S
Bu'lock, Frances
Brook, J David
Bhattacharya, Shoumo
Lathrop, Mark
Santibanez-Koref, Mauro
Cordell, Heather J
Goodship, Judith A
Keavney, Bernard D

September 2012

Previous studies have shown that copy-number variants (CNVs) contribute to the risk of complex devel...

ClinVar’s Pathogenic and Likely pathogenic variants associated with CVDs having significantly higher percent allele frequency in SAS than in other populations.

Muhammad Shakeel (509491)
Muhammad Irfan (255476)
Ishtiaq Ahmad Khan (4840206)

February 2018

ClinVar’s Pathogenic and Likely pathogenic variants associated with CVDs having significantly hig...

Copy Number Variation.

Macé, A.
Kutalik, Z.
Valsesia, A.

January 2018

Differences between genomes can be due to single nucleotide variants (SNPs), translocations, inversi...

Allele frequency spectrum (AFS) of all and deleterious SNVs in genes related to CVDs.

Muhammad Shakeel (509491)
Muhammad Irfan (255476)
Ishtiaq Ahmad Khan (4840206)

February 2018

A. All SNVs in 1000 Genomes PJL, B. Deleterious SNVs in 1000 Genomes PJL. C....

CNVs and genetic medicine (excitement and consequences of a rediscovery).

Beckmann, J.S.
Sharp, A.J.
Antonarakis, S.E.

January 2008

The extensive variability of individual human genomes contributes to phenotypic variability. Structu...

Human genes in pathogenic CNVs are dosage-sensitive and have constrained evolutionary copy number

Alan Rice (389291)
Aoife McLysaght (118491)

June 2016

<div>Human genes in pathogenic CNVs are dosage-sensitive and have constrained evolutionary copy n...

CNVs and genetic medicine (excitement and consequences of a rediscovery)

Beckmann, J. S.
Sharp, A. J.
Antonarakis, Stylianos

January 2008

The extensive variability of individual human genomes contributes to phenotypic variability. Structu...

Proportions of individuals with pathogenic SNVs in the study cohort, compared with the corresponding proportions of the same variants in ExAC NFE and SweGen.

Ellika Sahlin (507944)
Anna Gréen (6180506)
Peter Gustavsson (118726)
Agne Liedén (118589)
Magnus Nordenskjöld (118610)
Nikos Papadogiannakis (507943)
Karin Pettersson (2510647)
Daniel Nilsson (29307)
Jon Jonasson (495667)
Erik Iwarsson (507949)

January 2019

Proportions of individuals with pathogenic SNVs in the study cohort, compared with the corresponding...

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.

Soemedi, R
Wilson, IJ
Bentham, J
Darlay, R
Töpf, A
Zelenika, D
Cosgrove, C
Setchfield, K
Thornborough, C
Granados-Riveron, J
Blue, GM
Breckpot, J
Hellens, S
Zwolinkski, S
Glen, E
Mamasoula, C
Rahman, TJ
Hall, D
Rauch, A
Devriendt, K
Gewillig, M
O' Sullivan, J
Winlaw, DS
Bu'Lock, F
Brook, JD
Bhattacharya, S
Lathrop, M
Santibanez-Koref, M
Cordell, HJ
Goodship, JA
Keavney, BD

September 2012

Previous studies have shown that copy-number variants (CNVs) contribute to the risk of complex devel...

The number of variants subsetted from two datasets within the coordinates of our genes-sets of CVDs.

Abstract

Extracted data

The number of variants subsetted from two datasets within the coordinates of our genes-sets of CVDs.

Abstract

Extracted data

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