Publications by authors named "Raphael Lanos"
Article Synopsis
- The study addresses the challenge of manually reinterpreting sequenced genomic data due to human resource limitations and inconsistent procedures, highlighting the need for more efficient methods.* -
- The Genome Alert! method automates the reporting of clinically significant changes in variant classifications from the ClinVar database, revealing a significant number of changes and new gene-disease associations over a two-year period.* -
- The use of Genome Alert! resulted in a high validation rate of classification changes, leading to new diagnoses for several patients and the identification of valuable gene-disease associations not previously documented in existing databases.*
Article Synopsis
- The study focuses on interpreting germline variants in cancer patients to improve medical management, especially as the number of tests increases.
- Researchers developed a functional assay using patients' blood to assess p53 functionality after exposure to doxorubicin, measuring its impact through specific mRNA and transcriptional responses.
- Results showed significant differences in p53 scores between wild-type individuals and those with pathogenic variants, highlighting the assay's potential for rapid classification of variants and identifying non-coding functional variants.
Article Synopsis
- Branch points (BPs) are crucial for the splicing of pre-mRNA and are located in short motifs upstream of acceptor splice sites (3'ss); several bioinformatics tools for detecting BPs have been developed recently.
- In a study utilizing a large dataset of human 3'ss, Branchpointer was found to be the most accurate tool for identifying BPs, showing 99.48% accuracy for constitutive and 65.84% for alternative 3'ss.
- Additionally, BPP was the best performer for predicting the impact of variants in BP regions on mRNA splicing, achieving an accuracy of 89.17%.
Article Synopsis
- A massive parallel sequencing approach has been developed for diagnosing inherited colorectal cancer (CRC) by quickly capturing and analyzing specific genetic sequences in 10 key genes linked to Mendelian CRC.
- The sequencing was performed using advanced Illumina platforms and involved a comprehensive bioinformatics pipeline for precise mapping, variant calling, and structural variant detection.
- The analysis of 1644 cases revealed a 20% detection rate of harmful genetic variants, which increased to 37% for Lynch syndrome patients, highlighting the method's effectiveness in identifying complex genetic alterations related to CRC.
Purposes: Hydrops fetalis is a life-threatening fetal condition, and 85% of all cases are classified as nonimmune hydrops fetalis (NIHF). Up to 15% of NIHF cases may be due to inborn errors of metabolism (IEM), but a large proportion of cases linked to metabolic disorders remains undiagnosed. This lack of diagnosis may be related to the limitations of conventional biological procedures, which involve sequential investigations and require multiple samples and steps.
View Article and Find Full Text PDFLi-Fraumeni Syndrome (LFS) results from heterozygous germline mutations of TP53, encoding a key transcriptional factor activated in response to DNA damage. We have recently shown, from a large LFS series, that dominant-negative missense mutations are the most clinically severe and, thanks to a new p53 functional assay in lymphocytes, that they alter the p53 transcriptional response to DNA damage more drastically than null mutations. In this study, we first confirmed this observation by performing the p53 functional assay in lymphocytes from 56 TP53 mutation carriers harbouring 35 distinct alterations.
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