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Bioinformatics of the Brain

variations in 77 different miRNAs, spread throughout the miRNA precursors

in various locations.

Novak et al employed single cell transcriptomics using human IPSC (In-

duced pluripotent stem cells) and identified a core network which interacts

with all 19 PD genes [78]. They also showed that this core network is asso-

ciated with key PD signaling pathways. Hemmings and coworkers identified

common and distinct biological pathways for posttraumatic stress disorder,

PD and SCZ in a South African sample using RNA-seq analysis [79].

In a study by Hensman Moss and colleagues, whole blood from two HD

groups was used for RNA-Seq transcriptomic analysis, which discovered dys-

regulated gene sets in the blood of these individuals [80]. Their findings in-

dicate that transcription is disturbed in peripheral cells in HD by similar

mechanism of actions as those in the brain. Using single nucleus RNA-seq,

Lim and colleagues conducted a transcriptome-wide association research for

HD [81]. Their data reveal PRKCE and TPK1 as key genes and link aberrant

cell maturation to glucose and lipid metabolism.

Rare mutations may be partially to blame for the absent MS heritability.

Mescheriakova and colleagues performed whole exome sequencing in hopes of

identifying rare variants associated with the disease [82]. They discovered an

uncommon missense variation in the FKBP6 gene. Esposito and colleagues

performed a whole genome sequencing study of MS patients and healthy con-

trols using DNA and blood samples [83]. They found that in response to in-

flammatory triggers in peripheral monocytes, the activity of GRAMD1B was

reduced in vessel-associated astrocytes of MS lesions, suggesting a potential

role in the modulation of inflammatory response and disease development.

The field of RNA-seq research has also included neuropsychiatric disor-

ders. Mostafavi and coworkers performed whole blood RNA-seq in MDD re-

vealing that there was no substantial single-gene connection [84]. They dis-

covered correlation between MDD and elevated gene expression in the in-

terferon signaling pathway. Their findings are consistent with the theory that

alterations in immunological signaling contribute to the advancement, appear-

ance and persistence of MDD. A more recent study by Fabbri and colleagues

employed whole exome sequencing and genome-wide genotyping to examine

treatment-resistant depression (TRD), which affects 30 % of MDD patients

[85]. They proposed pertinent biological pathways linked to TRD as well as a

fresh methodological strategy for TRD prediction.

As stated before, for some brain disease and disorders a special effort was

made to investigate blood biomarkers. Through the simultaneous measure-

ment of mRNAs, long noncoding RNAs (lncRNAs), miRNAs, and circular

RNAs (circRNAs) in a group of patients, Yang et al. carried out a whole tran-

scriptome investigation using whole blood to identify the molecular networks

in SZC [86]. Their comprehensive analysis identified dysregulated networks

and pathways in SZC. There are also SZC studies that combine microar-

ray and RNA-seq technologies. For instance, Bakewell and colleagues per-

formed exome sequencing and SNP (single nucleotide polymorphism) array to