proposal application form - NIHR Imperial BRC

throneharshBiotechnology

Oct 2, 2013 (3 years and 11 months ago)

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NIHR BioResource
Exome Sequencing Proposal
s


Requester

Details

A

requester should have discussed and obtained agreement from the NIHR
BioResource Topic Specific working group

for an application
.

The completed form is
to be emailed to Dr Graham Kiddle at
gk302@cam.ac.uk
. Further relevant
information can be found in the NIHR BioResource Operational Strategy document.

Name

of Lead
Applicant


Department
,
Hospital



Postcode, City



Phone


Email


Co
-
Applicants
1



NIHR
BioResource
Topic Specific
Working Group

(i)

Neuroscience

(ii)

Cardiovascular

(iii)

Infection & Immunity

(iv)

Rare Diseases

Does it concern a
Rare Disease
2
,
incl. Rare Cancers


Please Select

(Y/N)




1

please provide First Name, Surname, Email, Hospital, City, Country and if more than three Co
-
Applicants then
provide the required information in an accompanying spread
-
sheet.

2

a Rare Disease has an incidence of
5

in 10,000
of the general UK
population o
r lower. Applications for Rare Diseases
which are aligned to one of the three NIHR BioResource Topic Specific
Working Groups
are particularly welcomed.



Scientific proposal

Background
: t
he following
headings

need to be
addressed

in

the
Background
. The
overal length of the Background

should not
exceed

1

side of
A4

Clinical phenotype









The
collection of cases









Which underlying genetic architecture is assumed









Which
power calculations
have
been performed









A
ny further
comment
s
about the proposed study
which need addressing


(
do not exceed

½ A4)






Analysis plan

Will you require bioinformatics support from EASIH?

Y/N

Please outline your proposed analysis plan


Who will be providing other bioinformatics
/statistical genetics

support? Please
state name, position and institution
.

Name

Position

Institution
















Sample details

Q1:
Number of
s
amples

r
equested


Q2: Has ethical approval been obtained for the


-

(a) sequencing of the coding fraction of the genome (the exome)?

Y/N

-

(b) sequencing of the entire genome?

Y/N

-

(c) release

of the sequencing data on the European Genome
-
phenome Archive under a “Click
-
It” agreement?

Y/N

Q3a: Are samples in your possession and ready to submit? *

Y/N

*, if YES, then continue with Q3b; if NO then skip Q3b
-
Q3 and continue with Q4

Q3b:
If YES

what is the number of DNA samples available now?


Q3c: Have all samples been quality checked?

Y/N

If yes, by which method(s)?





Q3d: Do all samples have >
5

g of DNA?


Y/N

Q3e:
What is the DNA concentration of the stock in

g/ml?


Q4:
If
NO samples are available
or
if
you are expanding your current collection of
samples
(
declared under Q3b
)

then
please
indicate the number of

samples
which
may

be

imported
in
to

Cambridge

from
the beginning of
Q
uarter
3
-
2012 until
the
end of
Q
uarter
2
-
2013
.
It is essential for the planning of the
E
xome
-
seq
pipeline
to
provide reliable figures for sample imports over the next
4

quarters


Quarter

-
year

No. of
samples

% of total
sample
collection

Q
uarter
3
-
2012



Q
uarter
4
-
2012



Quarter
1
-
2013



Quarter
2
-
2013





Q5:
Are samples for which you seek
Exome
-
seq capacity

now and in the future

from
cases
of:

Centre &
Country

Number

%




NIHR
Biomedical Research Centres

~



NIHR
Biomedical Research Units
~



Other UK centres
~



Other European centres



US centres



Centres in other countries not listed above




Q6: Do you have any further comments to make in relation to your request for
Exome
-
seq capacity (do not exceed ½ A4)



~
The priority of the NIHR BioResource Exome
-
seq

Facility at the EASIH is to sequence samples from
individuals who have been consented to the local
BRC/BRU
BioResource
or NIHR BioResource, or in the case
of existing collections where there is agreement to seek consent for the NIHR BioResource in paralle
l. Some
capacity may be available for already collected DNA samples where it is not possible to seek
NIIHR
BioResource
consent, providing local funding is in place. For expansion of collections enrolment via the local

BRC/BRU

or NIHR BioResource is a prer
equisite to get access to the NIHR BioResource
Exome
-
s
eq
Facility.
DNA samples from abroad are permissible under certain circumstances, e.g. in the case of Rare Diseases
and co
-
investment from separate funding streams for a part of the Exome
-
seq costs from

locally available
budgets will be agreed. Studies
with

relevance for
one of the three following
clinical domains: (i)

Neurological Disorders,
above all

those with releva
nce to Dementia and Alzheimer’s
Disease; (ii)
Cardiovascular Diseases
,

(iii) Infection

& Immunity

are particularly welcomed
.