Insertion variants missing in the human reference genome are widespread among human populations
نویسندگان
چکیده
منابع مشابه
Reference Values of Lymphocyte Sub-Populations in Healthy Human Immunodeficiency Virus-Negative Iranian Adults
Background: Lymphocyte subsets enumeration is considered prominent in the management of primary and acquired immunodeficiency disorders. Because of local variations due to race, age, gender, and environmental conditions on lymphocyte subsets, and to improve the accuracy of interpretation of laboratory findings, reference intervals must be determined in every population. Objective: To establish ...
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We have surveyed 18 natural populations of Drosophila melanogaster for the presence of 23 retrotransposon-gene-association alleles (i.e., the presence of an LTR retrotransposon sequence in or within 1,000 bp of a gene) recently identified in the sequenced D. melanogaster genome. The identified associations were detected only in the D. melanogaster populations. The majority (61%) of the identifi...
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We present a way to compress the complete human genome against a reference genome to achieve 139x 895x compression. Our approach can potentially compress BUILD 36.3 of the human reference genome against (about 2.6GiB) BUILD 36.1 (also known as hg18 ) to achieve a compression ratio of 139x (about 19.2MiB). The Korean genome KOREF 20090224 (about 2.9GiB) can be compressed against KOREF 20090131 t...
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In humans, most recombination events occur in a small fraction of the genome. These hotspots of recombination show considerable variation in intensity and/or location across species and, potentially, across human populations. On a larger scale, the patterns of recombination rates have been mostly investigated in individuals of European ancestry, and it remains unknown whether the results obtain...
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Long-term studies have revealed population declines in fishes, amphibians, reptiles, birds and mammals. In birds, and particularly amphibians, these declines are a global phenomenon whose causes are often unclear. Among reptiles, snakes are top predators and therefore a decline in their numbers may have serious consequences for the functioning of many ecosystems. Our results show that, of 17 sn...
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ژورنال
عنوان ژورنال: BMC Biology
سال: 2020
ISSN: 1741-7007
DOI: 10.1186/s12915-020-00894-1