Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.

ABSTRACT:

Background

Our primary aim was to evaluate the systematic reanalysis of singleton exome sequencing (ES) data for unsolved cases referred for any indication. A secondary objective was to undertake a literature review of studies examining the reanalysis of genomic data from unsolved cases.

Methods

We examined data from 58 unsolved cases referred between June 2016 and March 2017. First reanalysis at 4-13 months after the initial report considered genes newly associated with disease since the original analysis; second reanalysis at 9-18 months considered all disease-associated genes. At 25-34 months we reviewed all cases and the strategies which solved them.

Results

Reanalysis of existing ES data alone at two timepoints did not yield new diagnoses. Over the same timeframe

SUBMITTER: Tan NB 

PROVIDER: S-EPMC7667328 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature