We based our analysis on segmental duplications (SDs) in the human genome, which have been previously identified and can be downloaded from the UCSC genome browser [3]. Basically, we start from a list of pairwise local alignments longer than 1 kbp with at least 90% identity between different...
the Human Genome Our goal is to unlock the full potential of genomic data, transforming it into actionable knowledge that can revolutionize healthcare and research. Track our curation progress Helping to Make an Impact Slide 1 of 3. Webinar ...
The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human genome. We also present an initial analysis of the...
Mutation list is available to download for study 1 and study 3. Mutations from study 2 are available upon request to the authors of the original study. Human genome assembly GRCh38 is downloaded from here. PCAWG signatures, mutational profiles and signature activity data are available from this ...
This systematic discovery of recombinases directly from microbial sequencing data provides a resource of over 60 LSRs experimentally characterized in human cells for large-payload genome insertion without exposed DNA double-stranded breaks.Similar content being viewed by others Targeted DNA integration in ...
Human Genome Meeting (HGM) is a series of annual conferences organised by the Human Genome Organisation (HUGO). It started as a meeting dedicated for Human Genome Mapping. Over the years, with the completion of the Human Genome Project, HGM has evolved from a small targeted meeting into an ...
High-quality sequences were then aligned to the human reference genome build hg38 with bowtie2 (v2.4.2)51. Sequences mapped to the human genome under --very-sensitive mode were removed, and the resulting sequences were used in downstream analysis. Supplementary Data 9 provides a summary of...
Long non-coding RNAs (lncRNAs), transcripts longer than 200 nt without protein coding potential, comprise upwards of 58,000 genes in the human genome and have important roles in neural development, function, and disease [1–9]. LncRNAs exhibit tissue specific expression, with the brain producing...
oncoEnrichRis an R package for functional interrogation of human gene lists in the context of cancer. The package leverages an extensive amount of prior molecular knowledge that allows for biological interpretation along multiple dimensions, both at the systems level and at the level of individual ...
Meta-analysis of human genome-microbiome association studies: the MiBioGen consortium initiative Acknowledgement and funding information. (DOCX 37 kb) Rights and permissions Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativ...