Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F24%3A10487492" target="_blank" >RIV/00064203:_____/24:10487492 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/24:10487492

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=g86Hjr0YY-" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=g86Hjr0YY-</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/s41525-024-00436-6" target="_blank" >10.1038/s41525-024-00436-6</a>

Result language

angličtina

Original language name

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

Original language description

We report the results of a comprehensive copy number variant (CNV) reanalysis of 9171 exome sequencing datasets from 5757 families affected by a rare disease (RD). The data reanalysed was extremely heterogeneous, having been generated using 28 different enrichment kits by 42 different research groups across Europe partnering in the Solve-RD project. Each research group had previously undertaken their own analysis of the data but failed to identify disease-causing variants. We applied three CNV calling algorithms to maximise sensitivity, and rare CNVs overlapping genes of interest, provided by four partner European Reference Networks, were taken forward for interpretation by clinical experts. This reanalysis has resulted in a molecular diagnosis being provided to 51 families in this sample, with ClinCNV performing the best of the three algorithms. We also identified partially explanatory pathogenic CNVs in a further 34 individuals. This work illustrates the value of reanalysing ES cold cases for CNVs.

Czech name

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Czech description

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Type

J_SC - Article in a specialist periodical, which is included in the SCOPUS database

CEP classification

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OECD FORD branch

30101 - Human genetics

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2024

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

npj Genomic Medicine

ISSN

2056-7944

e-ISSN

2056-7944

Volume of the periodical

9

Issue of the periodical within the volume

1

Country of publishing house

GB - UNITED KINGDOM

Number of pages

24

Pages from-to

49

UT code for WoS article

—

EID of the result in the Scopus database

2-s2.0-85207830154