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2014 ; 51
(12
): 1309-20
Nephropedia Template TP
gab.com Text
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English Wikipedia
In search of rare variants: preliminary results from whole genome sequencing of
1,325 individuals with psychophysiological endophenotypes
#MMPMID25387710
Vrieze SI
; Malone SM
; Vaidyanathan U
; Kwong A
; Kang HM
; Zhan X
; Flickinger M
; Irons D
; Jun G
; Locke AE
; Pistis G
; Porcu E
; Levy S
; Myers RM
; Oetting W
; McGue M
; Abecasis G
; Iacono WG
Psychophysiology
2014[Dec]; 51
(12
): 1309-20
PMID25387710
show ga
Whole genome sequencing was completed on 1,325 individuals from 602 families,
identifying 27 million autosomal variants. Genetic association tests were
conducted for those individuals who had been assessed for one or more of 17
endophenotypes (N range?=?802-1,185). No significant associations were found.
These 27 million variants were then imputed into the full sample of individuals
with psychophysiological data (N range?=?3,088-4,469) and again tested for
associations with the 17 endophenotypes. No association was significant. Using a
gene-based variable threshold burden test of nonsynonymous variants, we obtained
five significant associations. These findings are preliminary and call for
additional analysis of this rich sample. We argue that larger samples,
alternative study designs, and additional bioinformatics approaches will be
necessary to discover associations between these endophenotypes and genomic
variation.