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Advancements in Structural Variant Detection with Sniffles2

Fritz Sedlazeck from Baylor College of Medicine spoke at the Nanopore Community Meeting in Boston on the “Detection of mosaic and somatic structural variants with Sniffles2.”Sedlazeck spoke about the advantages of long-read sequencing for structural variant detection. Their team is improving Sniffles2 for insertions and deletions and larger structural variants. Full structural variant genotyping requires […]
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Identification of Retrotransposons in Cancer and Germline Samples

Tonight, I watched Kimmo Palin from the University of Helsinki present at London Calling 2019 on “Retrotransposon variation in human genome and tumorigenesis.” They began by discussing retrotransposons and describing them as “copy-paste elements” in the genome that copy themselves with an RNA intermediate. They range in size between 300 bp and 6,000 bp. LINE1 […]
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Liftoff Annotation of Novel Genes from T2T Human Genome

Alaina Shumate from John Hopkins University presented at the Nanopore Community Meeting 2021 about “The annotation of novel genes in a complete human genome.” They began by describing how in 2003 scientists “finished” the Human genome Project but there still was missing sequence! In 2021, the Telomere-to-Telomere (T2T) Consortium actually completed the sequence of a […]
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Methplotlib and the Development of Tools for Allele-specific Methylation in the Human Brain

Wouter De Coster from the VIB Center for Molecular Neurology in Belgium presented a session for the Oxford Nanopore Community Meeting 2020 entitled “Allele-specific methylation in human brains.” De Coster is a bioinformatician and started with a quote from Sydney Brenner: “Progress in science depends on new techniques, new discoveries and new ideas, probably in […]
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Entering the T2T Era?

Telomere-to-telomere assembly has been coming up in Nanopore Community Meeting 2022 sessions frequently. The session I watched tonight had it in the title: “Expanding studies of global genomic diversity with complete, telomere-to-telomere assembly of diploid genomes” presented by Karen Miga from the University of California, Santa Cruz. Miga shared information about the release of the […]
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