Sample prioritization
The Sample Prioritization Group is co-led by
Prof. Christine Klein and Dr. Kishore Raj Kumar.
Our goal is to prioritize samples for the Monogenic Hub
in a manner that is fair and democratic.
We are prioritizing cases where a monogenic cause
is strongly suspected. Multiple factors will be considered, including prior genetic testing with a negative result, number of affected samples available per family, availability of samples from both non-affected parents, age at Parkinson's disease (PD) onset and consanguinity. We are using scoring criteria with this aim in mind.
As a guide, a link to the table used for prioritization
scoring can be found here.
Prof. Christine Klein and Dr. Kishore Raj Kumar.
Our goal is to prioritize samples for the Monogenic Hub
in a manner that is fair and democratic.
We are prioritizing cases where a monogenic cause
is strongly suspected. Multiple factors will be considered, including prior genetic testing with a negative result, number of affected samples available per family, availability of samples from both non-affected parents, age at Parkinson's disease (PD) onset and consanguinity. We are using scoring criteria with this aim in mind.
As a guide, a link to the table used for prioritization
scoring can be found here.
By focusing on samples with a high chance of a monogenic cause,
we hope to increase the likelihood of discovering
new Parkinson's disease genes. We also hope to
gather samples from across the world and include patients
from underrepresented populations. We would like to encourage you to submit samples and welcome any questions about the sample prioritization process - please feel free to contact us with your queries.
from underrepresented populations. We would like to encourage you to submit samples and welcome any questions about the sample prioritization process - please feel free to contact us with your queries.
The Sample Prioritization Group is co-led
by Prof. Christine Klein and Dr. Kishore Raj Kumar. Our goal is to prioritize samples
for the Monogenic Hub in a manner that is fair and democratic.
We are prioritizing cases where a monogenic causeis strongly suspected. Multiple factors will be considered, including prior genetic testing with a negative result, number
by Prof. Christine Klein and Dr. Kishore Raj Kumar. Our goal is to prioritize samples
for the Monogenic Hub in a manner that is fair and democratic.
We are prioritizing cases where a monogenic causeis strongly suspected. Multiple factors will be considered, including prior genetic testing with a negative result, number
of affected samples available per family,
availability of samples from both non-affected
parents
, age at Parkinson's disease (PD) onset and
consanguinity. We are using scoring criteria
with this aim in mind. As a guide, a link to the table used for
prioritization scoring can be found
here.
By focusing on samples with a high chance of a monogenic cause, we hope to increase
the likelihood of discovering new Parkinson's disease genes. We also hope to gather samples from across the world and include patients from underrepresented populations. We would like to encourage you to submit samples and welcome any questions about the sample prioritization process - please feel free to contact us with your queries.
By focusing on samples with a high chance of a monogenic cause, we hope to increase
the likelihood of discovering new Parkinson's disease genes. We also hope to gather samples from across the world and include patients from underrepresented populations. We would like to encourage you to submit samples and welcome any questions about the sample prioritization process - please feel free to contact us with your queries.
The Sample Prioritization Group is co-led
by Prof. Christine Klein and Dr. Kishore Raj Kumar.
Our goal is to prioritize samples for the Monogenic Hub
in a manner that is fair and democratic.
We are prioritizing cases where a monogenic cause
is strongly suspected. Multiple factors will be considered, including prior genetic testing
with a negative result, number of affected samples available per family, availability of samples from both non-affected parents, age at Parkinson's disease (PD) onset and consanguinity. We are using scoring criteria with this aim in mind. As a guide, a link to the table used for prioritization scoring can be found here.
By focusing on samples with a high chance
of a monogenic cause, we hope to increase
the likelihood of discovering new Parkinson's disease genes. We also hope to gather samples from across
the world and include patients from underrepresented populations. We would like to encourage you to submit samples and welcome any questions about the sample prioritization process - please feel free to contact us
with your queries.
by Prof. Christine Klein and Dr. Kishore Raj Kumar.
Our goal is to prioritize samples for the Monogenic Hub
in a manner that is fair and democratic.
We are prioritizing cases where a monogenic cause
is strongly suspected. Multiple factors will be considered, including prior genetic testing
with a negative result, number of affected samples available per family, availability of samples from both non-affected parents, age at Parkinson's disease (PD) onset and consanguinity. We are using scoring criteria with this aim in mind. As a guide, a link to the table used for prioritization scoring can be found here.
By focusing on samples with a high chance
of a monogenic cause, we hope to increase
the likelihood of discovering new Parkinson's disease genes. We also hope to gather samples from across
the world and include patients from underrepresented populations. We would like to encourage you to submit samples and welcome any questions about the sample prioritization process - please feel free to contact us
with your queries.
We are using scoring criteria with this aim in mind.
As a guide, a link to the table used for prioritization scoring can be found here.
«y focusing on samples with a high chance of a monogenic cause, we hope to increase
the likelihood of discovering new Parkinson's disease genes. We also hope to gather samples from across the world and include patients from underrepresented populations. We would like to encourage you to submit samples and welcome any questions about the sample prioritization process - please feel free to contact us with your queries.
As a guide, a link to the table used for prioritization scoring can be found here.
«y focusing on samples with a high chance of a monogenic cause, we hope to increase
the likelihood of discovering new Parkinson's disease genes. We also hope to gather samples from across the world and include patients from underrepresented populations. We would like to encourage you to submit samples and welcome any questions about the sample prioritization process - please feel free to contact us with your queries.
The Sample Prioritization Group is co-led
by Prof. Christine Klein and Dr. Kishore Raj Kumar.
Our goal is to prioritize samples for the Monogenic Hub
in a manner that is fair and democratic.
We are prioritizing cases where a monogenic cause
is strongly suspected. Multiple factors will be
considered, including prior genetic testing
with a negative result, number of affected samples available per family, availability of samples from both non-affected parents, age at Parkinson's disease (PD) onset and consanguinity. We are using scoring criteria
with this aim in mind. As a guide, a link to the table used for prioritization scoring can be found here.
By focusing on samples with a high chance
of a monogenic cause, we hope to increase
the likelihood of discovering new Parkinson's disease genes. We also hope to gather samples from across
the world and include patients from underrepresented populations. We would like to encourage you to submit samples and welcome any questions about the sample prioritization process - please feel free to contact us
with your queries.
by Prof. Christine Klein and Dr. Kishore Raj Kumar.
Our goal is to prioritize samples for the Monogenic Hub
in a manner that is fair and democratic.
We are prioritizing cases where a monogenic cause
is strongly suspected. Multiple factors will be
considered, including prior genetic testing
with a negative result, number of affected samples available per family, availability of samples from both non-affected parents, age at Parkinson's disease (PD) onset and consanguinity. We are using scoring criteria
with this aim in mind. As a guide, a link to the table used for prioritization scoring can be found here.
By focusing on samples with a high chance
of a monogenic cause, we hope to increase
the likelihood of discovering new Parkinson's disease genes. We also hope to gather samples from across
the world and include patients from underrepresented populations. We would like to encourage you to submit samples and welcome any questions about the sample prioritization process - please feel free to contact us
with your queries.
The Sample Prioritization Group
is co-led by Prof. Christine Klein and Dr. Kishore Raj Kumar. Our goal
is to prioritize samples
for the Monogenic Hub in a manner that is fair and democratic.
We are prioritizing cases where
a monogenic cause is strongly suspected. Multiple factors will be
considered, including prior genetic testing with a negative result, number of affected samples available per family, availability
of samples from both non-affected parents, age at Parkinson's disease (PD) onset and consanguinity. We are using scoring criteria with this aim in mind. As a guide, a link
to the table used for prioritization scoring can be found here.
By focusing on samples with a high chance of a monogenic cause, we hope to increase the likelihood
of discovering new Parkinson's disease genes. We also hope
to gather samples from across
the world and include patients
from underrepresented populations. We would like to encourage you
to submit samples and welcome any questions about the sample prioritization process - please feel free to contact us with your queries.
is co-led by Prof. Christine Klein and Dr. Kishore Raj Kumar. Our goal
is to prioritize samples
for the Monogenic Hub in a manner that is fair and democratic.
We are prioritizing cases where
a monogenic cause is strongly suspected. Multiple factors will be
considered, including prior genetic testing with a negative result, number of affected samples available per family, availability
of samples from both non-affected parents, age at Parkinson's disease (PD) onset and consanguinity. We are using scoring criteria with this aim in mind. As a guide, a link
to the table used for prioritization scoring can be found here.
By focusing on samples with a high chance of a monogenic cause, we hope to increase the likelihood
of discovering new Parkinson's disease genes. We also hope
to gather samples from across
the world and include patients
from underrepresented populations. We would like to encourage you
to submit samples and welcome any questions about the sample prioritization process - please feel free to contact us with your queries.
Prioritization criteria for WGS
We are prioritizing cases of Parkinson's disease
for whole genome sequencing where a monogenic etiology is strongly suspected.
for whole genome sequencing where a monogenic etiology is strongly suspected.
We will consider the following criteria:
Sample availability and number of affected family members
Pedigree structure
History of consanguinity
Age at onset
Availability of previous genetic testing results
Pedigree structure
History of consanguinity
Age at onset
Availability of previous genetic testing results
For example, we will prioritize
families with a younger age at onset,
multiple affected family members with available
samples,
and those patients who have had a gene panel, exome sequencing
or MLPA testing that was negative for known genetic causes of PD.
and those patients who have had a gene panel, exome sequencing
or MLPA testing that was negative for known genetic causes of PD.
For example, we will prioritize
families with a younger age
at onset, multiple affected family members with available samples, and those patients who have had a gene panel, exome sequencing or MLPA testing that was negative for known genetic causes of PD.
at onset, multiple affected family members with available samples, and those patients who have had a gene panel, exome sequencing or MLPA testing that was negative for known genetic causes of PD.
We are prioritizing cases
of Parkinson's disease for whole genome sequencing where
a monogenic etiology is strongly suspected.
of Parkinson's disease for whole genome sequencing where
a monogenic etiology is strongly suspected.
We will consider
the following criteria:
the following criteria:
Sample availability and number
of affected family members
Pedigree structure
History of consanguinity
Age at onset
Availability of previous genetic testing results
of affected family members
Pedigree structure
History of consanguinity
Age at onset
Availability of previous genetic testing results
For example, we will prioritize
families with a younger age at onset,
multiple affected family members with available
samples, and
those patients who have had a gene panel, exome sequencing
or MLPA testing that was negative
for known genetic causes of PD.
or MLPA testing that was negative
for known genetic causes of PD.
Prioritization criteria
for whole genome sequencing (WGS)
for whole genome sequencing (WGS)
Table. Scoring system for WGS sample prioritization
Table. Scoring system
for WGS sample prioritization
for WGS sample prioritization
*: Africa, Latin America/Caribe, Native Americans/Oceania,
Middle East and non-East Asians
Each patient/family is reviewed by
two independent reviewers. Reviewers are
blinded to the origin
of the patients/families. If scores are highly discrepant,
a third reviewer is asked to provide a score
for adjudication. Lastly, all scores are given to two reviewers not previously involved in the scoring process who will be asked to rank the submitted families/cases.
of the patients/families. If scores are highly discrepant,
a third reviewer is asked to provide a score
for adjudication. Lastly, all scores are given to two reviewers not previously involved in the scoring process who will be asked to rank the submitted families/cases.
In order to ensure as fair and democratic a process as possible
and to select
the most promising families, sample prioritization is undertaken by a panel of reviewers including GP2 members.
the most promising families, sample prioritization is undertaken by a panel of reviewers including GP2 members.
Each patient/family is reviewed by
two independent reviewers. Reviewers are
blinded to the origin
of the patients/families. If scores are highly discrepant, a third reviewer is asked to provide
a score for adjudication. Lastly, all scores are given to two reviewers not previously involved
in the scoring process who will be asked to rank
the submitted families/cases.
of the patients/families. If scores are highly discrepant, a third reviewer is asked to provide
a score for adjudication. Lastly, all scores are given to two reviewers not previously involved
in the scoring process who will be asked to rank
the submitted families/cases.
In order to ensure as fair
and democratic a process as possible and to select the most promising families, sample prioritization
is undertaken by a panel of reviewers including GP2 members.
and democratic a process as possible and to select the most promising families, sample prioritization
is undertaken by a panel of reviewers including GP2 members.
In order to ensure as fair and democratic
a process as possible and to select the most promising families, sample prioritization
is undertaken by a panel of reviewers including GP2 members.
a process as possible and to select the most promising families, sample prioritization
is undertaken by a panel of reviewers including GP2 members.
Each patient/family is reviewed by
two independent reviewers. Reviewers are
blinded to the origin
of the patients/families. If scores are highly discrepant,
a third reviewer is asked to provide a score
for adjudication. Lastly, all scores are given to two reviewers not previously involved in the scoring process who will be asked to rank the submitted families/cases.
of the patients/families. If scores are highly discrepant,
a third reviewer is asked to provide a score
for adjudication. Lastly, all scores are given to two reviewers not previously involved in the scoring process who will be asked to rank the submitted families/cases.
Each patient/family is reviewed by
two independent reviewers. Reviewers are
blinded to the origin
of the patients/families. If scores are highly discrepant,
a third reviewer is asked to provide a score
for adjudication. Lastly, all scores are given to two reviewers not previously involved in the scoring process who will be asked to rank the submitted families/cases.
of the patients/families. If scores are highly discrepant,
a third reviewer is asked to provide a score
for adjudication. Lastly, all scores are given to two reviewers not previously involved in the scoring process who will be asked to rank the submitted families/cases.
In order to ensure as fair and democratic
a process as possible and to select the most promising families, sample prioritization
is undertaken by a panel of reviewers including GP2 members.
a process as possible and to select the most promising families, sample prioritization
is undertaken by a panel of reviewers including GP2 members.
In order to ensure as fair
and democratic a process as possible and to select the most promising families, sample prioritization is undertaken
by a panel of reviewers including GP2 members.
and democratic a process as possible and to select the most promising families, sample prioritization is undertaken
by a panel of reviewers including GP2 members.
Each patient/family is reviewed
by two independent reviewers. Reviewers are blinded to the origin of the patients/families. If scores
are highly discrepant, a third reviewer is asked to provide a score for adjudication. Lastly, all scores
are given to two reviewers not previously involved in the scoring process who will be asked to rank
the submitted families/cases.
by two independent reviewers. Reviewers are blinded to the origin of the patients/families. If scores
are highly discrepant, a third reviewer is asked to provide a score for adjudication. Lastly, all scores
are given to two reviewers not previously involved in the scoring process who will be asked to rank
the submitted families/cases.
