Manuscript Writing: Publish or Perish and If it Wasn t Published it Didn t Happen

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Manuscript Writing: Publish or Perish and If it Wasn t Published it Didn t Happen Catherine A. McCarty, PhD, MPH Senior Research Scientist Center for Human Genetics

Learning Objectives Plan, organize and outline a written manuscript Identify opportunities for submission/ publication

Why Publish? To share research results For promotion and tenure Project completion

Journal Consideration Intended audience Type of study Journal databases Impact factor Cost Turn-around time On-line availability Length

Components of a Manuscript Describing Original Quantitative Research Title page Abstract Introduction Methods Results Discussion Acknowledgements References

Title Page Title Short and catchy Long and descriptive Author list Decide up-front First and last most important in science generally Key words MeSH words Corresponding author

Abstract Journals have different word limits Stand-alone Details in the next session

Introduction Set the stage Literature review Lead to justification for current study

Methods Data collection, management, analysis Detailed enough to allow replication Cite standard techniques without details IRB review and approval for human subjects research IACUC review and approval as necessary

Results Tables and figures labeled appropriately Do not use red and green together in figures Consider the audience for presentation of results

Discussion Place the results in context of prior research Do not restate results Implications of results Next steps Strengths and weaknesses

Acknowledgements Funding support Support staff Colleagues who provided feedback Professional writers Journals sometimes require written permission for acknowledgement

References Journal style Some journals limit the number Consider recent review papers Check spelling and citations! Don t over-cite self

Submission Process Usually on-line Requires a user name and password Cover letter Originality Appropriateness for journal Suggested reviewers Conflicts of interest

Where Do You Start? Set aside undisturbed time to write Choose the journal prior to writing Outline the tables as you conduct the analyses

A Few Other Things to Consider Writing style varies by journal and field Protection of intellectual property prior to publication (or presentation) Potential media releases Other types of manuscripts Review articles Qualitative research

Resources The Writing Center writing.wisc.edu Classes and workshops Books on scientific writing Conference sessions

Example

Genome-Wide Association Study of Cataract in the emerge Consortium CA McCarty, S Turner, L Rasmussen, C Waudby, R Berg, J Linneman, P Peissig, L Chen, J Starren, RA Wilke, M Ritchie

Aims Develop and validate electronic algorithms for cataract, smoking and statin use in PMRP Identify genetic predictors of agerelated cataract through genome-wide association study (GWAS)

Personalized Medicine Research Project (PMRP) Summary Population-based biobank with 20,000 Average clinical history 29 years Age 18-102, 57% female DNA, plasma and serum samples Dietary intake and physical activity data 50 polymorphisms available for all Consented to allow data/sample sharing Access to medical records Ability to recontact subjects

Cataract - Approach Cataract - Based primarily on data from the electronic medical record: diagnoses dating back to 1960 procedure codes dating back to 1985 Case determination: includes senile cataract diagnosis and surgery excludes congenital, traumatic and juvenile cataract diagnoses takes into consideration age & chronic steroid use

HDL Samples Genotyped Cataract surgery Cataract diagnosis only Control <2 HDLs 596 302 538 Case 118 120 51 Control 182 337 303 Other 427 564 431 Total 1323 1323 1323 743 mixed, 882 nuclear, 122 cortical, 61% female

Genotyping 3968 DNA samples shipped to CIDR Illumina 660quad 3947 samples with GWAS data for analysis 17 samples dropped due to poor performance (CIDR) 4 samples dropped due to potenjal sample mix up 21 blind duplicates (99.99% concordance) 85 HapMap control samples (99.8% concordance) 44 CEU controls 32 Yoruba controls 5 Japanese 4 Han Chinese

Analytic Approach Cataract case definijons Case (including nuclear, corjcal, and mixed) Nuclear only cases CorJcal only cases LogisJc regression analysis in PLINK Mixed model regression in genabel AddiJonal cases from Group Heath (n=105) and Vanderbilt (n=91) Liale difference by type Liale difference in logisjc regression or mixed model regression Principal components analysis

Manhattan Plot 1 marker on chromosome 14 almost reaches genome-wide significance

Next Steps Add controls from the other sites Age at diagnosis as outcome variable Replication Gene/gene analyses Gene/environment analyses

Acknowledgements Center for Inherited Diseases Research, Johns Hopkins University Grant number U01HG004608-01

Manuscript Consideration Audience clinicians, geneticists? Background and context will vary Open access journal? Timing No other GWAS data published previously Data do not reach genome-wide significance Shared writing