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2016 ; 6
(ä): 27722
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Genomic leftovers: identifying novel microsatellites, over-represented motifs and
functional elements in the human genome
#MMPMID27278669
Fonville NC
; Velmurugan KR
; Tae H
; Vaksman Z
; McIver LJ
; Garner HR
Sci Rep
2016[Jun]; 6
(ä): 27722
PMID27278669
show ga
The human genome is 99% complete. This study contributes to filling the 1% gap by
enriching previously unknown repeat regions called microsatellites (MST). We
devised a Global MST Enrichment (GME) kit to enrich and nextgen sequence 2
colorectal cell lines and 16 normal human samples to illustrate its utility in
identifying contigs from reads that do not map to the genome reference. The
analysis of these samples yielded 790 novel extra-referential concordant contigs
that are observed in more than one sample. We searched for evidence of functional
elements in the concordant contigs in two ways: (1) BLAST-ing each contig against
normal RNA-Seq samples, (2) Checking for predicted functional elements using
GlimmerHMM. Of the 790 concordant contigs, 37 had an exact match to at least one
RNA-Seq read; 15 aligned to more than 100 RNA-Seq reads. Of the 249 concordant
contigs predicted by GlimmerHMM to have functional elements, 6 had at least one
exact RNA-Seq match. BLAST-ing these novel contigs against all publically
available sequences confirmed that they were found in human and chimpanzee BAC
and FOSMID clones sequenced as part of the original human genome project. These
extra-referential contigs predominantly contained pentameric repeats, especially
two motifs: AATGG and GTGGA.