ArticleMedizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V2021
Novel sequencing technologies and bioinformatic tools for deciphering the non-coding genome.
Article in Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed.
- Review
- A graph clustering algorithm for detection and genotyping of structural variants from long reads.GigaScience · 2024Article
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
High-throughput sequencing techniques have significantly increased the molecular diagnosis rate for patients with monogenic disorders. This is primarily due to a substantially increased identification rate of disease mutations in the coding sequence, primarily SNVs and indels. Further progress is hampered by difficulties in the detection of structural variants and the interpretation of variants outside the coding sequence. In this review, we provide an overview about how novel sequencing techniques and state-of-the-art algorithms can be used to discover small and structural variants across the whole genome and introduce bioinformatic tools for the prediction of effects variants may have in the non-coding part of the genome.
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Registered trials
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