The Human Genome Project (HGP) information site serves as an archive and provides information about the project's history, research and areas of impact. The HGP aimed to identify all the genes and sequences that
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De novo genome assembly is the process by which randomly sampled sequence fragments are reconstructed to determine the order of every base in a genome72. Stitched-together sequence fragments are referred to as contigs, and in the ideal case, there is one contig per chromosome. Short-read technol...
We report the generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project. These data have been further integrated and augmented by a number of evolutionary and computational analyses...
Finally, we analyzed the type, structure, and regulation of repeats in the human genome and their role in the induction of complex diseases. We believe that this review will facilitate a comprehensive understanding of repeats and provide guidance for repeat annotation and in-depth exploration of ...
Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals1. These assemblies cover more than 99% of the exp
Inferencing ancestry from nuclear genome sequencing data Broad genetic ancestries were estimated using ethnicities from the 1000 genomes project phase 3 (1KGP3)51
New York Genome Center, New York, NY, USA Catherine Reeves, Toby Bloom, Robert B. Darnell, Shailu Gargeya, Goren Germer, Lily Khaira, Tuuli Lappalainen, Tom Maniatis, Guiseppe Narzisi, Michael Wigler, Lara Winterkorn & Michael C. Zody Department of Statistics, Rutgers University, Piscataway,...
Whole-genome sequencing (WGS) is becoming widely used in clinical medicine in diagnostic contexts and to inform treatment choice. Here we evaluate the potential of the Oxford Nanopore Technologies (ONT) MinION long-read sequencer for routine WGS by sequencing the reference sample NA12878 and the ge...