Questions on Project

[upadhyd]

@invitae-viv , Had a few questions regarding the project. They are as follows:

1. Would the dataset contain duplicates? If not, which fields uniquely identify each record?
2. Length(Gene) - Are there any constraints on the length of the Gene?
3. NUCLEOTIDE_CHANGE - Can this field contain array of nucliotides. If so, should they displayed on the new line in the table?
4. In the tsv file, I see that for some of the records, gene is null (eg - line 9) of the file?
   • Assumption - In this case, the gene would be the same as the one in previous record. In this case RTP5. Is the assumption correct?

RTP5 CM000664.1:g.242812080_243048760del,NC_000002.11:g.242812080_243048760del236681 CM000664.1,NC_000002.11 not provided Not Provided ClinVar 2017-09-14 https://www.ncbi.nlm.nih.gov/clinvar/RCV000161254 GRCh37 2 242812080 243048760 - - NC_000002.11 NULL NULL
CM000665.1:g.65191847_65215804del,NC_000003.12:g.65206172_65230129del23958,NC_000003.11:g.65191847_65215804del23958 CM000665.1,NC_000003.12,NC_000003.11 not provided Not Provided ClinVar 2017-09-14 https://www.ncbi.nlm.nih.gov/clinvar/RCV000161287 GRCh37 3 65191847 65215804 - - NC_000003.11 NULL NULL

5. Language for backend. --> I am much familiar with Java/Spring framework and plan to design and develop the api in the same. If time permits, I will also replicate the same apis with python+flask or python+django through there is a bit of a learning curve for these on my end. Would that be acceptable?

[tobyberster]

@upadhyd Here are some answers to your questions:

1. There shouldn't be any duplicates in the dataset.
2. No constraints on the max length of the gene except that it needs to exist (can not be null) -> 4.
3. The screenshot provides some guidance on what we are looking for in terms of NUCLEOTIDE_CHANGE.
4. If a gene is null, you may skip the row entirely
5. Feel free to chose any language you desire and feel most comfortable with.

[upadhyd]

@tobyberster, thanks for the responses. Will keep the issue open for further clarification if needed as I implement the project.