Frequently Asked Questions about Searching the Catalog
(Click on the question to be linked with the answer.)
- CAN I SEARCH ON CHROMOSOME BREAKPOINTS?
- HOW DO I FIND SPECIFIC GENE MUTATIONS?
- IS THE SEARCH CASE SENSITIVE?
- HOW DO I FIND A SAMPLE USING A SPECIFIC CATALOG ID?
1. CAN I SEARCH ON CHROMOSOME BREAKPOINTS?
When searching for chromosomal breakpoints, specify aberration type using ISCN approved abbreviation, e.g., del, ins, inv, with one important exception. Use "t(" and not "t" to indicate a translocation. A detailed list of symbols and abbreviations is provided.
When searching for an aberration type which involves multiple chromosomes, specify the aberration type and then indicate each breakpoint by chromosome number. To find all translocations involving the q32 band on chromosome 1, type "t(" AND "1q32". To find cultures with translocations which involve both chromosomes 11 and 22, type "t(11;22)". To narrow the search, specify breakpoints, such as "11q23" AND "22q11".
To locate an aberration which involves only one chromosome, specify the aberration type and affected chromosome and then specify the breakpoint(s). To find cultures with inversions of the segment p24>p21 with chromosome 6, the search terms would be: "inv(6)" AND "p21" AND "p24". To locate cultures with interstitial deletions with breakpoints at 13q22 and 13q32, the search terms would be "del(13)" AND "q22" AND "q32". A search of "del(7)" AND "q34" will locate all cultures with terminal deletions of chromosome 7 with a single breakpoint at 7q34 or interstitial deletions of chromsome 7 with one breakpoint at 7q34 and the second breakpoint undefined.
2. HOW DO I FIND SPECIFIC GENE MUTATIONS?
Samples with characterized mutations may be located in several ways. To locate a specific mutation, use the quick search. When searching for specific gene mutations, try both "G551D" and "Gly551Asp". Consult Searching for Specific Gene Mutations for a detailed discussion of nomenclature for gene mutations.
To find all characterized mutations for a particular disease, examine the gene list to see if the gene of interest appears. Each gene name is linked to a list of samples in the collection with mutations in the specific gene. If any of the samples has characterized mutations, a list of the allelic variants will be provided. Each allelic variant is linked to a list of samples with the specific mutation.
Additionally, there is a category on the sidebar called "characterized mutations." The diseases accessed through that list have numerous known mutations, each of which is listed in a table for the specific disease.
3. IS THE SEARCH CASE SENSITIVE?
Searches are case-insensitive.
4. HOW DO I FIND A SAMPLE USING A SPECIFIC CATALOG ID?
Catalog IDs are alphanumeric composed of two letters and five numbers. For a search to be successful, one must use all seven digits. For example, only GM00010 will return results, not GM10. Occasionally, in publications, the leading zeros may be truncated when samples are cited. It is important to include those when searching for a particular sample.
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