Publications by authors named "H Dauchel"
The rapid transition from traditional sequencing methods to Next-Generation Sequencing (NGS) has allowed for a faster and more accurate detection of somatic variants (Single-Nucleotide Variant (SNV) and Copy Number Variation (CNV)) in tumor cells. NGS technologies require a succession of steps during which false variants can be silently added at low frequencies. Filtering these artifacts can be a rather difficult task especially when the experiments are designed to look for very low frequency variants.
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- Copy number variations (CNV) are crucial genetic alterations linked to cancer, affecting oncogenes and tumor suppressors; new sequencing techniques using unique molecular identifiers (UMI) enhance CNV detection.
- The study introduces a novel method called molecular Copy Number Alteration (mCNA), which employs UMI and a four-step algorithm to accurately identify copy number changes in cancer samples.
- mCNA has shown strong correlation with existing genomic methods and is made publicly available, promising improved accuracy in detecting CNV changes in cancer research.
Article Synopsis
- Identifying which nucleotide variants lead to diseases or affect traits is difficult in human genetics, especially for variants that alter RNA splicing.
- This study evaluates four user-friendly algorithms (QUEPASA, HEXplorer, SPANR, HAL) for predicting splicing regulatory elements, analyzing over 1,300 exonic variants linked to 89 genes.
- QUEPASA and HAL showed the highest predictive accuracy, suggesting these algorithms can help sift through vast genetic data to find potential disease-causing variants, making them useful in genomic medicine.
Motivation: Next-generation sequencing has become the go-to standard method for the detection of single-nucleotide variants in tumor cells. The use of such technologies requires a PCR amplification step and a sequencing step, steps in which artifacts are introduced at very low frequencies. These artifacts are often confused with true low-frequency variants that can be found in tumor cells and cell-free DNA.
View Article and Find Full Text PDFPhaeodactylum tricornutum is the most studied diatom encountered principally in coastal unstable environments. It has been hypothesized that the great adaptability of P. tricornutum is probably due to its pleomorphism.
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