Motivation: Next-generation sequencing has become an important tool in molecular biology. Various protocols to investigate genomic, transcriptomic and epigenomic features across virtually all species and tissues have been devised. For most of these experiments, one of the first crucial steps of bioinformatic analysis is the mapping of reads to reference genomes.
Results: Here, we present thorough benchmarks of our read aligner segemehl in comparison with other state-of-the-art methods. Furthermore, we introduce the tool lack to rescue unmapped RNA-seq reads which works in conjunction with segemehl and many other frequently used split-read aligners.
Availability: lack is distributed together with segemehl and freely available at www.bioinf.uni-leipzig.de/Software/segemehl/.
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http://dx.doi.org/10.1093/bioinformatics/btu146 | DOI Listing |
Head Neck
January 2025
Departement de Pathologie, Centre Hospitalo-Universitaire Montpellier, Montpellier, France.
Background: The detection rate of oncogenic human papillomaviruses (HPVs) in sinonasal squamous cell carcinomas (SNSCCs) varies among studies. The mutational landscape of SNSCCs remains poorly investigated.
Methods: We investigated the prevalence and prognostic significance of HPV infections based on p16 protein expression, HPV-DNA detection, and E6/E7 mRNA expression using immunohistochemistry, polymerase chain reaction, and in situ hybridization, respectively.
Cancer Cytopathol
February 2025
Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Background: Major mutations (e.g., KRAS, GNAS, TP53, SMAD4) in pancreatic cyst fluid (PCF) are useful for classifying and risk stratifying certain cyst types, particularly in cases with nondiagnostic cytology.
View Article and Find Full Text PDFHLA
January 2025
School of Medicine, University of Mostar, Mostar, Bosnia and Herzegovina.
The novel HLA-C*06:44:02 allele differs from HLA-C*06:44:01 by one synonymous nucleotide substitution in exon 2.
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January 2025
Department of Clinical Pathology, School of Medicine, Kyungpook National University, Daegu, Republic of Korea.
HLA-C*03:657 differs from HLA-C*03:04:01:02 by one nucleotide substitution in codon 82 in exon 2.
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January 2025
Department of Transfusion, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, China.
HLA-B*37:114 has a single non-synonymous change from HLA-B*37:01:01:01 changing residue 163 from Threonine to Lysine'.
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