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ensembl-gh-mirror
ensembl-rest
Commits
7c3797e9
Unverified
Commit
7c3797e9
authored
7 months ago
by
Nuno Agostinho
Committed by
GitHub
7 months ago
Browse files
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Document VEP plugins REVEL and ClinPred (#654)
parent
15c89d62
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root/documentation/vep.conf
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7c3797e9
...
...
@@ -310,6 +310,16 @@
default
=
0
example
=
snv_indels
,<
wbr
>
1
</
CADD
>
<
REVEL
>
type
=
Boolean
description
=<
a
rel
=
"external"
href
=
"https://sites.google.com/site/revelgenomics"
>
Rare
Exome
Variant
Ensemble
Learner
(
REVEL
)</
a
>
is
an
ensemble
method
for
predicting
the
pathogenicity
of
missense
variants
based
on
a
combination
of
scores
from
multiple
individual
tools
.
REVEL
is
only
available
for
non
-
commercial
use
. (<
a
target
=
"_blank"
href
=
"https://raw.githubusercontent.com/ensembl-variation/VEP_plugins/main/REVEL.pm"
>
plugin
details
</
a
>)
default
=
0
</
REVEL
>
<
ClinPred
>
type
=
Boolean
description
=<
a
rel
=
"external"
href
=
"https://sites.google.com/site/clinpred"
>
ClinPred
</
a
>
is
a
prediction
tool
to
identify
disease
-
relevant
nonsynonymous
single
nucleotide
variants
(
only
supported
for
human
).
The
predictor
incorporates
existing
pathogenicity
scores
and
benefits
from
normal
population
allele
frequencies
.
ClinPred
is
only
available
for
non
-
commercial
use
. (<
a
target
=
"_blank"
href
=
"https://raw.githubusercontent.com/ensembl-variation/VEP_plugins/main/ClinPred.pm"
>
plugin
details
</
a
>)
default
=
0
</
ClinPred
>
<
AlphaMissense
>
type
=
Boolean
description
=
Annotates
missense
variants
with
the
pre
-
computed
<
a
target
=
"_blank"
href
=
"https://www.science.org/doi/10.1126/science.adg7492"
>
AlphaMissense
</
a
>
pathogenicity
scores
.
AlphaMissense
is
a
deep
learning
model
developed
by
Google
DeepMind
that
predicts
the
pathogenicity
of
single
nucleotide
missense
variants
.
Data
contained
within
the
AlphaMissense
Database
is
licensed
under
the
Creative
Commons
Attribution
4
.
0
International
License
(
CC
-
BY
) (
the
"License"
).
You
may
obtain
a
copy
of
the
License
at
: <
a
target
=
"_blank"
href
=
"https://creativecommons.org/licenses/by/4.0/legalcode"
>
https
://
creativecommons
.
org
/
licenses
/
by
/
4
.
0
/
legalcode
</
a
>. (<
a
target
=
"_blank"
href
=
"https://raw.githubusercontent.com/ensembl-variation/VEP_plugins/main/AlphaMissense.pm"
>
plugin
details
</
a
>)
...
...
@@ -664,6 +674,16 @@
default
=
0
example
=
snv_indels
,<
wbr
>
1
</
CADD
>
<
REVEL
>
type
=
Boolean
description
=<
a
rel
=
"external"
href
=
"https://sites.google.com/site/revelgenomics"
>
Rare
Exome
Variant
Ensemble
Learner
(
REVEL
)</
a
>
is
an
ensemble
method
for
predicting
the
pathogenicity
of
missense
variants
based
on
a
combination
of
scores
from
multiple
individual
tools
.
REVEL
is
only
available
for
non
-
commercial
use
. (<
a
target
=
"_blank"
href
=
"https://raw.githubusercontent.com/ensembl-variation/VEP_plugins/main/REVEL.pm"
>
plugin
details
</
a
>)
default
=
0
</
REVEL
>
<
ClinPred
>
type
=
Boolean
description
=<
a
rel
=
"external"
href
=
"https://sites.google.com/site/clinpred"
>
ClinPred
</
a
>
is
a
prediction
tool
to
identify
disease
-
relevant
nonsynonymous
single
nucleotide
variants
(
only
supported
for
human
).
The
predictor
incorporates
existing
pathogenicity
scores
and
benefits
from
normal
population
allele
frequencies
.
ClinPred
is
only
available
for
non
-
commercial
use
. (<
a
target
=
"_blank"
href
=
"https://raw.githubusercontent.com/ensembl-variation/VEP_plugins/main/ClinPred.pm"
>
plugin
details
</
a
>)
default
=
0
</
ClinPred
>
<
AlphaMissense
>
type
=
Boolean
description
=
Annotates
missense
variants
with
the
pre
-
computed
<
a
target
=
"_blank"
href
=
"https://www.science.org/doi/10.1126/science.adg7492"
>
AlphaMissense
</
a
>
pathogenicity
scores
.
AlphaMissense
is
a
deep
learning
model
developed
by
Google
DeepMind
that
predicts
the
pathogenicity
of
single
nucleotide
missense
variants
.
Data
contained
within
the
AlphaMissense
Database
is
licensed
under
the
Creative
Commons
Attribution
4
.
0
International
License
(
CC
-
BY
) (
the
"License"
).
You
may
obtain
a
copy
of
the
License
at
: <
a
target
=
"_blank"
href
=
"https://creativecommons.org/licenses/by/4.0/legalcode"
>
https
://
creativecommons
.
org
/
licenses
/
by
/
4
.
0
/
legalcode
</
a
>. (<
a
target
=
"_blank"
href
=
"https://raw.githubusercontent.com/ensembl-variation/VEP_plugins/main/AlphaMissense.pm"
>
plugin
details
</
a
>)
...
...
@@ -1006,6 +1026,16 @@
default
=
0
example
=
snv_indels
,<
wbr
>
1
</
CADD
>
<
REVEL
>
type
=
Boolean
description
=<
a
rel
=
"external"
href
=
"https://sites.google.com/site/revelgenomics"
>
Rare
Exome
Variant
Ensemble
Learner
(
REVEL
)</
a
>
is
an
ensemble
method
for
predicting
the
pathogenicity
of
missense
variants
based
on
a
combination
of
scores
from
multiple
individual
tools
.
REVEL
is
only
available
for
non
-
commercial
use
. (<
a
target
=
"_blank"
href
=
"https://raw.githubusercontent.com/ensembl-variation/VEP_plugins/main/REVEL.pm"
>
plugin
details
</
a
>)
default
=
0
</
REVEL
>
<
ClinPred
>
type
=
Boolean
description
=<
a
rel
=
"external"
href
=
"https://sites.google.com/site/clinpred"
>
ClinPred
</
a
>
is
a
prediction
tool
to
identify
disease
-
relevant
nonsynonymous
single
nucleotide
variants
(
only
supported
for
human
).
The
predictor
incorporates
existing
pathogenicity
scores
and
benefits
from
normal
population
allele
frequencies
.
ClinPred
is
only
available
for
non
-
commercial
use
. (<
a
target
=
"_blank"
href
=
"https://raw.githubusercontent.com/ensembl-variation/VEP_plugins/main/ClinPred.pm"
>
plugin
details
</
a
>)
default
=
0
</
ClinPred
>
<
AlphaMissense
>
type
=
Boolean
description
=
Annotates
missense
variants
with
the
pre
-
computed
<
a
target
=
"_blank"
href
=
"https://www.science.org/doi/10.1126/science.adg7492"
>
AlphaMissense
</
a
>
pathogenicity
scores
.
AlphaMissense
is
a
deep
learning
model
developed
by
Google
DeepMind
that
predicts
the
pathogenicity
of
single
nucleotide
missense
variants
.
Data
contained
within
the
AlphaMissense
Database
is
licensed
under
the
Creative
Commons
Attribution
4
.
0
International
License
(
CC
-
BY
) (
the
"License"
).
You
may
obtain
a
copy
of
the
License
at
: <
a
target
=
"_blank"
href
=
"https://creativecommons.org/licenses/by/4.0/legalcode"
>
https
://
creativecommons
.
org
/
licenses
/
by
/
4
.
0
/
legalcode
</
a
>. (<
a
target
=
"_blank"
href
=
"https://raw.githubusercontent.com/ensembl-variation/VEP_plugins/main/AlphaMissense.pm"
>
plugin
details
</
a
>)
...
...
@@ -1342,6 +1372,16 @@
default
=
0
example
=
snv_indels
,<
wbr
>
1
</
CADD
>
<
REVEL
>
type
=
Boolean
description
=<
a
rel
=
"external"
href
=
"https://sites.google.com/site/revelgenomics"
>
Rare
Exome
Variant
Ensemble
Learner
(
REVEL
)</
a
>
is
an
ensemble
method
for
predicting
the
pathogenicity
of
missense
variants
based
on
a
combination
of
scores
from
multiple
individual
tools
.
REVEL
is
only
available
for
non
-
commercial
use
. (<
a
target
=
"_blank"
href
=
"https://raw.githubusercontent.com/ensembl-variation/VEP_plugins/main/REVEL.pm"
>
plugin
details
</
a
>)
default
=
0
</
REVEL
>
<
ClinPred
>
type
=
Boolean
description
=<
a
rel
=
"external"
href
=
"https://sites.google.com/site/clinpred"
>
ClinPred
</
a
>
is
a
prediction
tool
to
identify
disease
-
relevant
nonsynonymous
single
nucleotide
variants
(
only
supported
for
human
).
The
predictor
incorporates
existing
pathogenicity
scores
and
benefits
from
normal
population
allele
frequencies
.
ClinPred
is
only
available
for
non
-
commercial
use
. (<
a
target
=
"_blank"
href
=
"https://raw.githubusercontent.com/ensembl-variation/VEP_plugins/main/ClinPred.pm"
>
plugin
details
</
a
>)
default
=
0
</
ClinPred
>
<
AlphaMissense
>
type
=
Boolean
description
=
Annotates
missense
variants
with
the
pre
-
computed
<
a
target
=
"_blank"
href
=
"https://www.science.org/doi/10.1126/science.adg7492"
>
AlphaMissense
</
a
>
pathogenicity
scores
.
AlphaMissense
is
a
deep
learning
model
developed
by
Google
DeepMind
that
predicts
the
pathogenicity
of
single
nucleotide
missense
variants
.
Data
contained
within
the
AlphaMissense
Database
is
licensed
under
the
Creative
Commons
Attribution
4
.
0
International
License
(
CC
-
BY
) (
the
"License"
).
You
may
obtain
a
copy
of
the
License
at
: <
a
target
=
"_blank"
href
=
"https://creativecommons.org/licenses/by/4.0/legalcode"
>
https
://
creativecommons
.
org
/
licenses
/
by
/
4
.
0
/
legalcode
</
a
>. (<
a
target
=
"_blank"
href
=
"https://raw.githubusercontent.com/ensembl-variation/VEP_plugins/main/AlphaMissense.pm"
>
plugin
details
</
a
>)
...
...
@@ -1689,6 +1729,16 @@
default
=
0
example
=
snv_indels
,<
wbr
>
1
</
CADD
>
<
REVEL
>
type
=
Boolean
description
=<
a
rel
=
"external"
href
=
"https://sites.google.com/site/revelgenomics"
>
Rare
Exome
Variant
Ensemble
Learner
(
REVEL
)</
a
>
is
an
ensemble
method
for
predicting
the
pathogenicity
of
missense
variants
based
on
a
combination
of
scores
from
multiple
individual
tools
.
REVEL
is
only
available
for
non
-
commercial
use
. (<
a
target
=
"_blank"
href
=
"https://raw.githubusercontent.com/ensembl-variation/VEP_plugins/main/REVEL.pm"
>
plugin
details
</
a
>)
default
=
0
</
REVEL
>
<
ClinPred
>
type
=
Boolean
description
=<
a
rel
=
"external"
href
=
"https://sites.google.com/site/clinpred"
>
ClinPred
</
a
>
is
a
prediction
tool
to
identify
disease
-
relevant
nonsynonymous
single
nucleotide
variants
(
only
supported
for
human
).
The
predictor
incorporates
existing
pathogenicity
scores
and
benefits
from
normal
population
allele
frequencies
.
ClinPred
is
only
available
for
non
-
commercial
use
. (<
a
target
=
"_blank"
href
=
"https://raw.githubusercontent.com/ensembl-variation/VEP_plugins/main/ClinPred.pm"
>
plugin
details
</
a
>)
default
=
0
</
ClinPred
>
<
AlphaMissense
>
type
=
Boolean
description
=
Annotates
missense
variants
with
the
pre
-
computed
<
a
target
=
"_blank"
href
=
"https://www.science.org/doi/10.1126/science.adg7492"
>
AlphaMissense
</
a
>
pathogenicity
scores
.
AlphaMissense
is
a
deep
learning
model
developed
by
Google
DeepMind
that
predicts
the
pathogenicity
of
single
nucleotide
missense
variants
.
Data
contained
within
the
AlphaMissense
Database
is
licensed
under
the
Creative
Commons
Attribution
4
.
0
International
License
(
CC
-
BY
) (
the
"License"
).
You
may
obtain
a
copy
of
the
License
at
: <
a
target
=
"_blank"
href
=
"https://creativecommons.org/licenses/by/4.0/legalcode"
>
https
://
creativecommons
.
org
/
licenses
/
by
/
4
.
0
/
legalcode
</
a
>. (<
a
target
=
"_blank"
href
=
"https://raw.githubusercontent.com/ensembl-variation/VEP_plugins/main/AlphaMissense.pm"
>
plugin
details
</
a
>)
...
...
@@ -2044,6 +2094,16 @@
default
=
0
example
=
snv_indels
,<
wbr
>
1
</
CADD
>
<
REVEL
>
type
=
Boolean
description
=<
a
rel
=
"external"
href
=
"https://sites.google.com/site/revelgenomics"
>
Rare
Exome
Variant
Ensemble
Learner
(
REVEL
)</
a
>
is
an
ensemble
method
for
predicting
the
pathogenicity
of
missense
variants
based
on
a
combination
of
scores
from
multiple
individual
tools
.
REVEL
is
only
available
for
non
-
commercial
use
. (<
a
target
=
"_blank"
href
=
"https://raw.githubusercontent.com/ensembl-variation/VEP_plugins/main/REVEL.pm"
>
plugin
details
</
a
>)
default
=
0
</
REVEL
>
<
ClinPred
>
type
=
Boolean
description
=<
a
rel
=
"external"
href
=
"https://sites.google.com/site/clinpred"
>
ClinPred
</
a
>
is
a
prediction
tool
to
identify
disease
-
relevant
nonsynonymous
single
nucleotide
variants
(
only
supported
for
human
).
The
predictor
incorporates
existing
pathogenicity
scores
and
benefits
from
normal
population
allele
frequencies
.
ClinPred
is
only
available
for
non
-
commercial
use
. (<
a
target
=
"_blank"
href
=
"https://raw.githubusercontent.com/ensembl-variation/VEP_plugins/main/ClinPred.pm"
>
plugin
details
</
a
>)
default
=
0
</
ClinPred
>
<
AlphaMissense
>
type
=
Boolean
description
=
Annotates
missense
variants
with
the
pre
-
computed
<
a
target
=
"_blank"
href
=
"https://www.science.org/doi/10.1126/science.adg7492"
>
AlphaMissense
</
a
>
pathogenicity
scores
.
AlphaMissense
is
a
deep
learning
model
developed
by
Google
DeepMind
that
predicts
the
pathogenicity
of
single
nucleotide
missense
variants
.
Data
contained
within
the
AlphaMissense
Database
is
licensed
under
the
Creative
Commons
Attribution
4
.
0
International
License
(
CC
-
BY
) (
the
"License"
).
You
may
obtain
a
copy
of
the
License
at
: <
a
target
=
"_blank"
href
=
"https://creativecommons.org/licenses/by/4.0/legalcode"
>
https
://
creativecommons
.
org
/
licenses
/
by
/
4
.
0
/
legalcode
</
a
>. (<
a
target
=
"_blank"
href
=
"https://raw.githubusercontent.com/ensembl-variation/VEP_plugins/main/AlphaMissense.pm"
>
plugin
details
</
a
>)
...
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