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Family-Based Study on Ulcerative Colitis with Whole Exome Sequencing

ABSTRACT:

Genetic risk factors for ulcerative colitis are not well understood. We performed a family-based whole exome sequencing analysis to identify potential causal mutations. In the proband, we found a heterozygous de novo mutation in the gene HSPA1L. Our results indicate that the de novo mutation in HSPA1L is associated with ulcerative colitis.

PROVIDER: phs001251 | dbGaP |

SECONDARY ACCESSION(S): PRJNA353971PRJNA353972

REPOSITORIES: dbGaP

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Dataset's files

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			Action	DRS
	GapExchange_phs001251.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs001251.UC_WES.v1.p1.MULTI.pdf	Pdf
	manifest_phs001251.UC_WES.v1.p1.c1.GRU.pdf	Pdf
	datadict_v2.xsl	Other

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