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Tytuł pozycji:

Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.

Tytuł:
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Autorzy:
Halfmeyer I; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
Bartolomaeus T; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
Popp B; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Center of Functional Genomics, Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Hessische Straße 4A, 10115 Berlin, Germany.
Radtke M; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
Helms T; Limbus Medical Technologies GmbH, Neuer Markt 9/10, 18055 Rostock, Germany.
Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
Popp D; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
Źródło:
Genes [Genes (Basel)] 2022 Dec 22; Vol. 14 (1). Date of Electronic Publication: 2022 Dec 22.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
Język:
English
Imprint Name(s):
Original Publication: Basel : MDPI
MeSH Terms:
Exome*/genetics
Neurodevelopmental Disorders*/diagnosis
Neurodevelopmental Disorders*/genetics
Humans ; Exome Sequencing ; Cohort Studies ; Rare Diseases
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Contributed Indexing:
Keywords: exome sequencing; neurodevelopmental disorder; re-analysis
Entry Date(s):
Date Created: 20230121 Date Completed: 20230124 Latest Revision: 20230201
Update Code:
20240104
PubMed Central ID:
PMC9858523
DOI:
10.3390/genes14010030
PMID:
36672771
Czasopismo naukowe
The re-analysis of nondiagnostic exome sequencing (ES) has the potential to increase diagnostic yields in individuals with rare diseases, but its implementation in the daily routines of laboratories is limited due to restricted capacities. Here, we describe a systematic approach to re-analyse the ES data of a cohort consisting of 1040 diagnostic and nondiagnostic samples. We applied a strict filter cascade to reveal the most promising single-nucleotide variants (SNVs) of the whole cohort, which led to an average of 0.77 variants per individual that had to be manually evaluated. This variant set revealed seven novel diagnoses (0.8% of all nondiagnostic cases) and two secondary findings. Thirteen additional variants were identified by a scientific approach prior to this re-analysis and were also present in this variant set. This resulted in a total increase in the diagnostic yield of 2.3%. The filter cascade was optimised during the course of the study and finally resulted in sensitivity of 85%. After applying the filter cascade, our re-analysis took 20 h and enabled a workflow that can be used repeatedly. This work is intended to provide a practical recommendation for other laboratories wishing to introduce a resource-efficient re-analysis strategy into their clinical routine.

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