**Abstraction template with instructions for e-Journal Club.**

**\[Title of HuGENet™e-Journal Club Review\]**

**Abstraction Template**

+-----------------------+----------------------------------------------+
| **Key variables and   | **Article**                                  |
| description**         |                                              |
+-----------------------+----------------------------------------------+
| **Reference**         | \[First Author Last Name\] \[First Name      |
|                       | Initial\], et al. \[Title of Journal         |
| Complete the          | Article\]. \[Journal Title\]. \[Year\]       |
| bibliographic         | Month;volume(issue):pages.                   |
| reference for the     |                                              |
| article according to  |                                              |
| AJE format.           |                                              |
+-----------------------+----------------------------------------------+
| **Category of HuGE    |                                              |
| information**         |                                              |
|                       |                                              |
| > Specify the types   |                                              |
| > of information      |                                              |
| > (from the list      |                                              |
| > below) available in |                                              |
| > the article:        |                                              |
|                       |                                              |
| 1.  Prevalence of     |                                              |
|     gene variant      |                                              |
|                       |                                              |
| 2.  Gene-disease      |                                              |
|     association       |                                              |
|                       |                                              |
| 3.  Gene-environment  |                                              |
|     interaction       |                                              |
|                       |                                              |
| 4.  Gene-gene         |                                              |
|     interaction       |                                              |
|                       |                                              |
| 5.  Genetic test      |                                              |
|                       |                                              |
| evaluation/monitoring |                                              |
+-----------------------+----------------------------------------------+
| **Study hypotheses or |                                              |
| purpose**             |                                              |
|                       |                                              |
| State the authors     |                                              |
| study hypotheses or   |                                              |
| main purpose for      |                                              |
| conducting the study. |                                              |
+-----------------------+----------------------------------------------+
| **Gene(s)**           | **Gene name:**                               |
|                       |                                              |
| Identify the          | # Chromosome location                        |
| following:            |                                              |
|                       | # Gene product/function                      |
| -   Gene name         |                                              |
|                       | # Alleles:                                   |
| -   Chromosome        |                                              |
|     location          | **OMIM #:**                                  |
|                       |                                              |
| -   Gene              | **Gene name:** \[Repeat for second gene, if  |
|     product/function  | applicable\]                                 |
|                       |                                              |
| -   Alleles           | **...**                                      |
|                       |                                              |
| -   OMIM \#           |                                              |
+-----------------------+----------------------------------------------+
| **Environmental       | \[List numerically\]                         |
| factor(s)**           |                                              |
|                       |                                              |
| Identify the major    |                                              |
| environmental factors |                                              |
| studied (infectious,  |                                              |
| chemical, physical,   |                                              |
| nutritional, and      |                                              |
| behavioral).          |                                              |
+-----------------------+----------------------------------------------+
| **Health outcome(s)** | \[List numerically\]                         |
|                       |                                              |
| Identify the major    |                                              |
| health outcome(s)     |                                              |
| studied.              |                                              |
+-----------------------+----------------------------------------------+
| **Study design**      | \[Insert all that apply\]                    |
|                       |                                              |
| Specify the types of  |                                              |
| study designs (from   |                                              |
| the list below) in    |                                              |
| the article:          |                                              |
|                       |                                              |
| 1.  Case-control      |                                              |
|                       |                                              |
| 2.  Cohort            |                                              |
|                       |                                              |
| 3.  Cross-sectional   |                                              |
|                       |                                              |
| 4.  Descriptive or    |                                              |
|     case-series       |                                              |
|                       |                                              |
| 5.  Clinical trial    |                                              |
|                       |                                              |
| 6.  Population        |                                              |
|     screening         |                                              |
+-----------------------+----------------------------------------------+
| **Case definition**   | # \[Note: Depending on the study desig       |
|                       | n being discussed, this cell may not apply\] |
| For study designs 1,  |                                              |
| 4, and 5, define the  | # Disease case definition:                   |
| following if          |                                              |
| available:            | **Exclusion criteria:**                      |
|                       |                                              |
| -   Disease case      | **Gender:**                                  |
|     definition        |                                              |
|                       | **Race/ethnicity:** \[if not specified,      |
| -   Exclusion         | insert 'not specified'\]                     |
|     criteria          |                                              |
|                       | **Age:**                                     |
| -   Gender            |                                              |
|                       | **Time period:**                             |
| -   Race/ethnicity    |                                              |
|                       | **Geographic location:** \[if not specified, |
| -   Age               | insert 'not specified'\]                     |
|                       |                                              |
| -   Time period       | **Number of participants:** N (% of total    |
|                       | eligible)                                    |
| -   Geographic        |                                              |
|     location          |                                              |
|                       |                                              |
| -   Number of         |                                              |
|     participants (%   |                                              |
|     of total          |                                              |
|     eligible)         |                                              |
+-----------------------+----------------------------------------------+
| **Control             | # \[Note: Depending on the study desig       |
| definition**          | n being discussed, this cell may not apply\] |
|                       |                                              |
| For study design 1,   | # Control selection criteria:                |
| define the following  |                                              |
| if available:         | **Matching variables:**                      |
|                       |                                              |
| -   Control selection | **Exclusion criteria:**                      |
|     criteria          |                                              |
|                       | **Gender:**                                  |
| -   Matching          |                                              |
|     variables         | **Race/ethnicity:** \[if not specified,      |
|                       | insert 'not specified'\]                     |
| -   Exclusion         |                                              |
|     criteria          | **Age:**                                     |
|                       |                                              |
| -   Gender            | **Time period:**                             |
|                       |                                              |
| -   Race/ethnicity    | **Geographic location:** \[if not specified, |
|                       | insert 'not specified'\]                     |
| -   Age               |                                              |
|                       | **Number of participants:** N (% of total    |
| -   Time period       | eligible)                                    |
|                       |                                              |
| -   Geographic        |                                              |
|     location          |                                              |
|                       |                                              |
| -   Number of         |                                              |
|     participants (%   |                                              |
|     of total          |                                              |
|     eligible)         |                                              |
+-----------------------+----------------------------------------------+
| **Cohort definition** | # \[Note: Depe                               |
|                       | nding on the study design being discussed (i |
| For study designs 2,  | .e. case control), this cell may not apply\] |
| 3, and 6, define the  |                                              |
| following if          | # Cohort selection criteria:                 |
| available:            |                                              |
|                       | **Exclusion criteria:**                      |
| -   Cohort selection  |                                              |
|     criteria          | **Gender:**                                  |
|                       |                                              |
| -   Exclusion         | **Race/ethnicity:** \[if not specified,      |
|     criteria          | insert 'not specified'\]                     |
|                       |                                              |
| -   Gender            | **Age:**                                     |
|                       |                                              |
| -   Race/ethnicity    | **Time period:**                             |
|                       |                                              |
| -   Age               | **Geographic location:** \[if not specified, |
|                       | insert 'not specified'\]                     |
| -   Time period       |                                              |
|                       | **Number of participants:** N (% of total    |
| -   Geographic        | eligible)                                    |
|     location          |                                              |
|                       |                                              |
| -   Number of         |                                              |
|     participants (%   |                                              |
|     of total          |                                              |
|     eligible)         |                                              |
+-----------------------+----------------------------------------------+
| **Assessment of       | # Environmental factor:                      |
| environment factors** |                                              |
|                       | **Exposure assessment:**                     |
| For studies that      |                                              |
| include               | **Exposure definition:**                     |
| gene-environment      |                                              |
| interactions, define  | **Number of participants with exposure       |
| the following if      | data:** N (% of total eligible)              |
| available:            |                                              |
|                       | **Environmental factor:** \[Repeat for       |
| -   Environmental     | additional environmental factor, if          |
|     factor            | applicable\]                                 |
|                       |                                              |
| ```{=html}            | **...**                                      |
| <!-- -->              |                                              |
| ```                   |                                              |
| -   Exposure          |                                              |
|     assessment        |                                              |
|                       |                                              |
| -   Exposure          |                                              |
|     definition        |                                              |
|                       |                                              |
| -   Number of         |                                              |
|     participants with |                                              |
|     exposure data (%  |                                              |
|     of total          |                                              |
|     eligible)         |                                              |
+-----------------------+----------------------------------------------+
| **Genotyping**        | **Gene:**                                    |
|                       |                                              |
| Specify the           | **DNA source:**                              |
| following:            |                                              |
|                       | **Methodology:**                             |
| -   Gene              |                                              |
|                       | **Number of participants genotyped:** N (%   |
| -   DNA source        | of total eligible)                           |
|                       |                                              |
| -   Methodology       | **Gene:** \[Repeat for each additional gene, |
|                       | if applicable\]                              |
| -   Number of         |                                              |
|     participants      | ...                                          |
|     genotyped (% of   |                                              |
|     total eligible)   |                                              |
+-----------------------+----------------------------------------------+
| **Analysis**          |                                              |
|                       |                                              |
| Comment on the        |                                              |
| analysis carried out  |                                              |
| by the author(s).     |                                              |
| E.g. matching,        |                                              |
| modeling or           |                                              |
| statistical test      |                                              |
| used. Were the        |                                              |
| analyses appropriate? |                                              |
+-----------------------+----------------------------------------------+
| **Results**           |                                              |
|                       |                                              |
| Describe the major    |                                              |
| results under each of |                                              |
| the following HuGE    |                                              |
| categories. Include   |                                              |
| tables when data are  |                                              |
| provided:             |                                              |
|                       |                                              |
| 1.  Prevalence of     |                                              |
|     gene variant      |                                              |
|                       |                                              |
| 2.  Gene-disease      |                                              |
|     association       |                                              |
|                       |                                              |
| 3.  Gene-environment  |                                              |
|     interaction       |                                              |
|                       |                                              |
| 4.  Gene-gene         |                                              |
|     interaction       |                                              |
|                       |                                              |
| 5.  Genetic test      |                                              |
|                       |                                              |
| evaluation/monitoring |                                              |
+-----------------------+----------------------------------------------+
| **Conclusion**        |                                              |
|                       |                                              |
| State the author's    |                                              |
| overall conclusions   |                                              |
| from the study.       |                                              |
+-----------------------+----------------------------------------------+
| **Comments**          |                                              |
|                       |                                              |
| Provide additional    |                                              |
| insight, including    |                                              |
| methodologic issues   |                                              |
| and/or concerns,      |                                              |
| about the study.      |                                              |
+-----------------------+----------------------------------------------+