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Proceedings of the National Academy of Sciences, 1984 Unique DNA sequences can be determined directly from mouse genomic DNA. A denaturing gel separates by size mixtures of unlabeled DNA fragments from complete restriction and partial chemical cleavages of the entire genome. These lanes of DNA are transferred and UV-crosslinked to nylon membranes.
Church, George, Gilbert, Walter
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Truvari: refined structural variant comparison preserves allelic diversity
Genome Biology, 2022 The fundamental challenge of multi-sample structural variant (SV) analysis such as merging and benchmarking is identifying when two SVs are the same.
Adam C. English +4 more
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The Genome Sequence DataBase [PDF]
Nucleic Acids Research, 2000 The Genome Sequence DataBase (GSDB) is a database of publicly available nucleotide sequences and their associated biological and bibliographic information. Several notable changes have occurred in the past year: GSDB stopped accepting data submissions from researchers; ownership of data submitted to GSDB was transferred to GenBank; sequence analysis ...
Carol Harger +8 more
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Sequencing the human genome [PDF]
Nature, 1986 The title of the report by R. Myerowitz and N. Hogikyan on page 1646 of the issue of 27 June was incorrect. It should have been "Different mutations in Ashkenazi Jews and non-Jewish French Canadians with Tay-Sachs disease."
J B, Walsh, J, Marks
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PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation
Genome Biology, 2021 Long-read sequencing has been shown to have advantages in structural variation (SV) detection and methylation calling. Many studies focus either on SV, methylation, or phasing of SNV; however, only the combination of variants provides a comprehensive ...
Medhat Mahmoud +3 more
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Sequencing technologies and genome sequencing [PDF]
Journal of Applied Genetics, 2011 The high-throughput - next generation sequencing (HT-NGS) technologies are currently the hottest topic in the field of human and animals genomics researches, which can produce over 100 times more data compared to the most sophisticated capillary sequencers based on the Sanger method.
Pareek, Chandra Shekhar +2 more
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Unusual sequence characteristics of human chromosome 19 are conserved across 11 nonhuman primates
BMC Evolutionary Biology, 2020 Background Human chromosome 19 has many unique characteristics including gene density more than double the genome-wide average and 20 large tandemly clustered gene families.
R. Alan Harris +3 more
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Genome Biology, 2023 Background Systematic characterization of how genetic variation modulates gene regulation in a cell type-specific context is essential for understanding complex traits.
Jun Wang +10 more
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Genomic variant benchmark: if you cannot measure it, you cannot improve it
Genome Biology, 2023 Genomic benchmark datasets are essential to driving the field of genomics and bioinformatics. They provide a snapshot of the performances of sequencing technologies and analytical methods and highlight future challenges.
Sina Majidian +4 more
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Practical Neurology, 2021 The costs of whole-genome sequencing have rapidly decreased, and it is being increasingly deployed in large-scale clinical research projects and introduced into routine clinical care. This will lead to rapid diagnoses for patients with genetic disease but also introduces uncertainty because of the diversity of human genomes and the potential ...
Huw R Morris, Henry Houlden, James Polke
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