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Documentation for data model of ClinGen
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Genomic Reference Sequences #167

Closed rrfreimuth closed 3 years ago

rrfreimuth commented 8 years ago

GenomicRefSeq (abstract class) is the parent of both ChromRefSeq (e.g., 1-22, X, Y, mito) and GenRefSeq (e.g., RefSeqGene, LRG).

How would one represent a NC or NT sequence?

larrybabb commented 8 years ago

NC = ChromRefSeq I believe. I’m not sure about NT.

From: rrfreimuth notifications@github.com Reply-To: clingen-data-model/clingen-data-model reply@reply.github.com Date: Tuesday, March 1, 2016 at 4:19 PM To: clingen-data-model/clingen-data-model clingen-data-model@noreply.github.com Subject: [clingen-data-model] Genomic Reference Sequences (#167)

GenomicRefSeq (abstract class) is the parent of both ChromRefSeq (e.g., 1-22, X, Y, mito) and GenRefSeq (e.g., RefSeqGene, LRG).

How would one represent a NC or NT sequence?

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rrfreimuth commented 8 years ago

ChromRefSeq is at the level of an entire chromosome, whereas GeneRefSeq represents only the seq associated with the boundaries of a given gene. I think we need a way to represent something in between - a chunk of a chromosome that may contain one or more genes (or fragments thereof).

Per discussion during DMWG call on 3/9/16: General agreement. Will leave this issue open and will address when we go back to clean up the model.