Publications by authors named "P A Driguez"
We have used multiple sequencing approaches to sequence the genome of a volunteer from Saudi Arabia. We use the resulting data to generate a de novo assembly of the genome, and use different computational approaches to refine the assembly. As a consequence, we provide a contiguous assembly of the complete genome of an individual from Saudi Arabia for all chromosomes except chromosome Y, and label this assembly KSA001.
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- * This study combined short- and long-read scRNA-seq to create a detailed transcriptomic atlas of CRC, revealing 394 dysregulated transcript structures and identifying specific genes and isoforms linked to different tumor cell subpopulations with varied prognoses.
- * An algorithm was developed to link novel peptides from these recurrent tumor-specific transcripts with mass spectrometry data, leading to the discovery of recurring neoepitopes that could potentially inform the creation of new cancer vaccines.
Cancer is a multifaceted disease arising from numerous genomic aberrations that have been identified as a result of advancements in sequencing technologies. While next-generation sequencing (NGS), which uses short reads, has transformed cancer research and diagnostics, it is limited by read length. Third-generation sequencing (TGS), led by the Pacific Biosciences and Oxford Nanopore Technologies platforms, employs long-read sequences, which have marked a paradigm shift in cancer research.
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- The tree species analyzed belongs to a large genus with many species but only one fully annotated mitochondrial genome exists.
- The study presents the first complete mitogenome for this tree, revealing complex isomeric forms and minor rearrangements due to nested repeat sequences.
- Comparative analysis indicates significant evolutionary changes in repeat sequences between two mitogenomes, suggesting these repeats contribute to structural variations and adaptability in plant mitogenomes.
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- Long-read whole genome sequencing (lrWGS) shows promise for diagnosing autosomal recessive diseases that exome sequencing fails to identify, as tested on a cohort of 34 families.
- In this study, likely causal variants were found in 13 families (38%), revealing novel candidate genes linked to conditions like neonatal lactic acidosis and neurodevelopmental disorders.
- The results indicate that while lrWGS can uncover complex genetic factors, there are still important interpretation challenges that need to be addressed to fully leverage this technology for genetic diagnosis.