Eddy N de Boer
Overview
Explore the profile of Eddy N de Boer including associated specialties, affiliations and a list of published articles.
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Articles
14
Citations
234
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0
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Recent Articles
11.
Alimohamed M, Johansson L, de Boer E, Splinter E, Klous P, Yilmaz M, et al.
Clin Chem
. 2018 May;
64(7):1096-1103.
PMID: 29794109
Background: Over 500 translocations have been identified in acute leukemia. To detect them, most diagnostic laboratories use karyotyping, fluorescent in situ hybridization, and reverse transcription PCR. Targeted locus amplification (TLA),...
12.
van der Velde K, de Boer E, van Diemen C, Sikkema-Raddatz B, Abbott K, Knopperts A, et al.
Genome Biol
. 2017 Jan;
18(1):6.
PMID: 28093075
We present Gene-Aware Variant INterpretation (GAVIN), a new method that accurately classifies variants for clinical diagnostic purposes. Classifications are based on gene-specific calibrations of allele frequencies from the ExAC database,...
13.
Sikkema-Raddatz B, Johansson L, de Boer E, Boon E, Suijkerbuijk R, Bouman K, et al.
Sci Rep
. 2016 Dec;
6:38359.
PMID: 27917919
To properly interpret the result of a pregnant woman's non-invasive prenatal test (NIPT), her a priori risk must be taken into account in order to obtain her personalised a posteriori...
14.
Johansson L, van Dijk F, de Boer E, van Dijk-Bos K, Jongbloed J, van der Hout A, et al.
Hum Mutat
. 2016 Feb;
37(5):457-64.
PMID: 26864275
We have developed a tool for detecting single exon copy-number variations (CNVs) in targeted next-generation sequencing data: CoNVaDING (Copy Number Variation Detection In Next-generation sequencing Gene panels). CoNVaDING includes a...
15.
Sikkema-Raddatz B, Johansson L, de Boer E, Almomani R, Boven L, van den Berg M, et al.
Hum Mutat
. 2013 Apr;
34(7):1035-42.
PMID: 23568810
Mutation detection through exome sequencing allows simultaneous analysis of all coding sequences of genes. However, it cannot yet replace Sanger sequencing (SS) in diagnostics because of incomplete representation and coverage...