Harvard:Biophysics 101/2007/Project

Overview

• Project Goal: To develop tools to aid in analysis of personal DNA sequences.

We would like to develop software and documentation that will help people get from sequence to diagnosis. At the moment, we are focusing on identifying and classifying SNPs, but we will broaden this identification to other things like large deletions or insertions or repeats when we have more expertise. We are attempting to harness the power of other already existing tools, and we would also like to make this tool one that others can build upon. Specifically, our program will eventually be able to determine location based on BLAST, determine any SNPs based on NCBI SNP, and give a prognosis based on OMIM and online medical databases.

Inputs & Outputs

Path 1: Using BlastSNP

[1]. Sequence → RS Number (BLAST SNP)→ Disease Name (OMIM)

• Xiaodi: code prints and outputs to file pickled version of the OMIM output for our sequence
• Chris: quality checking code returns sequences back after dbSNP
• Kay: Work-around for SNPs non-directly linked to OMIM

[2]. RS Number → PubMed Articles → Mesh Terms

• Cynthia code (1) input: rs#, (2) output: list of mesh terms (3) prints top 5 PubMed articles, print list of mesh terms

[3]. RS Number (OMIM) → PubMed PMIDs → Mesh Terms

• Resmi: code (1) parses OMIM XML to (2) get PubMed PMIDs to (3) get Mesh Terms

[4]. Mesh Terms → Disease Name (in-house code)

• Deniz
• Zach: mesh term = CDC lookup = general disease name

[5]. Disease Name → Prevalence (→ regulates Useful Patient Info)

• Zach: code returns incidence data (based on California data) of the disease name

[6]. Disease Name → Useful Patient Info (Medical search engines)

• Deniz: examples of coding which returns news updates in several formats
• Tiff: code (a) displays relevant URLs (, (b) returns lists of drugs, clinical trials, experts, etc.
• Resmi: code displays PubMed review citations in text form
• Cynthia: code displays PubMed article citations in text form

[7]. All displayable data → Web Interface

• Xiaodi and Katie: code and description displays (some - still need to integrate some remaining scripts) preceding data in a web interface

Path 2: Using GenBank and PolyPhen

[1]. Sequence → Gene Name (BLAST)

• Zach(?): code returns relevant (normal)BLAST data, including the gene name/ID (?); [[1]] returns relevant (normal)BLAST data, including the gene location

[2]. Gene Name → Mutations (GenBank)

• Xiaodi
• Chris: quality checking code detects mismatches between our sequence and returned SNPs

[3]. Gene Name → ??? (PolyPhen)

• Mike

[4]. Mutations → Disease Name (OMIM)

• Xiaodi

[5]. Disease Name → Useful Patient Info (Medical search engines)

• Deniz: examples of code which returns Google news updates and MedStory news updates in several formats
• Tiff: code (a) displays relevant URLs, (b) returns lists of drugs, clinical trials, experts, etc.
• Resmi: code displays PubMed review citations in text form
• Cynthia: code displays PubMed article citations in text form

[6]. All displayable data → Web Interface

• Xiaodi and Katie: code and description displays (some - still need to integrate some remaining scripts) preceding data in a web interface

Diagram

Project-in-Progress

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Project Ideas

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