Paired-end mapping reveals extensive structural variation in the human genome
Abstract
Structural variation of the genome involves kilobase- to megabase-sized deletions, duplications, insertions, inversions, and complex combinations of rearrangements. We introduce high-throughput and massive paired-end mapping (PEM), a large-scale genome-sequencing method to identify structural varian …
Keywords
National Center for Biotechnology Information
NCBI
NLM
MEDLINE
genetic
humans
pubmed abstract
nih
national institutes of health
national library of medicine
research support
non-u.s. gov't
female
N.I.H.
Extramural
DNA
Sequence Analysis
genome
recombination
computational biology
chromosome mapping
oligonucleotide array sequence analysis
nucleic acid
retroelements
repetitive sequences
human*
mutation*
mutagenesis
sequence deletion
genetic variation*
insertional
pmid:17901297
pmc2674581
doi:10.1126/science.1149504
jan o korbel
alexander eckehart urban
michael snyder
chromosome inversion
gene fusion
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272023
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272023
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