implications (termed ELSI) of human genome studies. Competition from a private company, Celera, and technical advances sped up the timeline of the project. In 2001, a draft of the human genome was released (2001;Lander et al., 2001), and the finished sequence of the human genome and the...
To enable gain-of-function and loss-of-function arrayed CRISPR screens, we generated genome-wide activation (‘T.gonfio’, meaning swelling up) and deletion (‘T.spiezzo’, meaning breaking in two) arrayed libraries for human protein-coding genes using ALPA cloning (Fig. 1e). We used the...
Short tandem repeats (STRs) are highly polymorphic sequences throughout the human genome that are composed of repeated copies of a 1–6-bp motif. Over 1 million variable STR loci are known, some of which regulate gene expression and influence complex traits, such as height. Moreover, variant...
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Funding for this work was provided by Genome BC (SIP031) and Wellcome Leap Human Organs, Physiology, and Engineering (HOPE) program; the Canadian Foundation for Innovation/B.C. Knowledge Development Fund (John Evans Leader’s Fund 38395 to F.M.V.R); and the Canadian Institutes of Health ...
Segmental duplications are not uniformly distributed in the genome; some regions are duplicated many times while other are depleted of duplications. For example, the genomic regions proximal to centromers and telomeres are enriched with segmental duplications. Moreover, it was observed that localization...
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mRNA was isolated from the cells and microarray analysis was done using the Affymetrix Human Genome U133 2.0 Plus Chip using the protocols and facilities available through the Johns Hopkins Cancer Center Microarray Core. All data was obtained in duplicate from independent experiments. Software analysis...
the design of the brain is in the genome. the human genome has three billion base pairs or six billion bits, which is about 800 million bytes before compression, he says. eliminating redundancies and applying loss-less compression, that information can be compressed into about 50 million bytes...
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