Cohort Submission Help


You will need to upload an Excel file with a separate row for each family in your cohort. A suggested format for the file can be found here. If you have an existing file you may submit that with the following restrictions:

  • The file may not contain patient identifiers, including any ID that you use to identify the patient or family.
  • The file must contain the following columns (indicated as required in the example file):
    • Cohort Row Identifier: Consecutively numbered rows (one row per family).
    • Patient Gender: Enter 'M' for a male patient, 'F' for a female patient, or 'U' for unknown.
    • Parent Samples: Enter 'F' if you have a sample for the father, 'M' if you have one for the mother, 'F/M' if you have a sample on both, or 'U' if sample availability is unknown.
    • Inheritance: Enter the inheritance if multiple forms of inheritance are included in your cohort:
      • Autosomal dominant
      • Autosomal recessive
      • X-linked dominant
      • X-linked recessive
      • Y-linked
      • Isolated cases
    • Family History: Enter 'Y' if there is a family history of the condition in addition to the proband, 'N' if there is not a family history, or 'U' if you do not know.
    • Number of Affected Individuals: If there is a family history of the condition, enter the number of individuals on whom you have or think you can obtain a sample.
    • CNV Data Assayed (Required only if CNV data was collected on one or more individuals in the cohort); enter 'Y' if CNV data was assayed in a patient, 'N' if it was not or 'U' if unknown.
    • Genes Screened: As many columns as necessary to capture each of the genes that were screened for members of your cohort; enter 'Y' if the gene was screened in a patient, 'N' if it was not screened or 'U' if unknown.
    • Phenotypes: As many columns as necessary to capture each of the phenotypic features you assessed in your cohort; enter 'Y' if the feature was present in a patient, 'N' if it was not, or 'U' if you do not know.

The phenotype Review Committee will consider the information provided in your file. If the cohort is selected for inclusion in this project, you will need to enter data on each of the families chosen for sequencing. This will include all appropriate phenotypic information, family information, and sample information.

Thank you for considering submission of a cohort for evaluation.

Create a new cohort submission.