منابع مشابه
Structural variation in the human genome.
Genomic structural variation is generally defined as deletions, insertions, duplications, inversions, translocations or copy number variation (CNV) in large DNA segments (>1 kb). The structural variation in an individual genome includes thousands of discrete regions, spans millions of base pairs, and encompasses numerous entire genes and their regulatory regions. This results in missing or chan...
متن کاملStructural variation of the human genome.
There is growing appreciation that the human genome contains significant numbers of structural rearrangements, such as insertions, deletions, inversions, and large tandem repeats. Recent studies have defined approximately 5% of the human genome as structurally variant in the normal population, involving more than 800 independent genes. We present a detailed review of the various structural rear...
متن کاملHuman Genome Sequence and Variation
The knowledge of the content of the individual human genomes has become a sine qua non for the understanding of the relationship between genotypic and phenotypic variability. The genome sequence and the ongoing functional annotation require both comparative genome analysis among different species and experimental validation. Extensive common and rare genomic variability exists that strongly inf...
متن کاملO-27: Genome Instabilities in Preimplantation Development Leading to Genetic Variation between Tissues of Normal Human Fetuses
Background: Origin of midlife copy number variations (CNVs) between tissues in non-genetic diseases is unknown. Such genomic differences caused by post-zygotic events. They might either happen during the life or due to prevalent mosaicism in preimplantation stage. We aim to explore fetal mosaicism and its origins. Materials and Methods: Two apparently normal fetuses were achieved following the ...
متن کاملHGVA: the Human Genome Variation Archive
High-profile genomic variation projects like the 1000 Genomes project or the Exome Aggregation Consortium, are generating a wealth of human genomic variation knowledge which can be used as an essential reference for identifying disease-causing genotypes. However, accessing these data, contrasting the various studies and integrating those data in downstream analyses remains cumbersome. The Human...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1996
ISSN: 1468-6244
DOI: 10.1136/jmg.33.11.976-a