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Table 1 RNA-seq datasets from studies on human neurological disorder, which yielded novel candidate genes with the T2T-CHM13 assembly

From: Transcriptome driven discovery of novel candidate genes for human neurological disorders in the telomer-to-telomer genome assembly era

Disorder

Experimental design

Abbreviation

N (ctrl vs case)

Publication

Alzheimer’s disease

Alzheimer’s patient’s induced neurons

AD/n

8;10

[9]

Amyotrophic lateral sclerosis

Single-cell SOD1 E100G ALS iPSC-derived motor neurons

ALS/sc

192;192

[10]

Amyotrophic lateral sclerosis

Patient iPSC-derived motor neurons harboring SOD1 mutations

ALS/mn

3;2

[11]

Amyotrophic lateral sclerosis

CRISPR/Cas9-mediated targeted gene correction in patient iPSCs

ALS/crispr

2;2

[12]

Autism spectrum disorder

NSCs derived from patient fibroblasts

ASD/nsc

5;8

[13]

Autism spectrum disorder

Postmortem brains

ASD/pb

2;2

[14]

Epilepsy

Dentate granule cells from hippocampi from patients with mesial temporal lobe epilepsy

E/dc

14;8

[15]

Epilepsy

Patient primary skin fibroblasts

E/pf

5;6

[16]

Epilepsy

Patient-derived neuronal cells

E/nc

3;3

[17]

Epilepsy

Patient-derived neuronal astrocytes

E/na

3;3

[17]

Epilepsy

Patient-derived neuronal oligodendroglial progenitor cells

E/nopc

3;3

[17]

Glioblastoma

Endothelial cells isolated from post-mortem and resection surgery from human cortex

Gliob/ec

7;5

[18]

Glioma

Patient-derived glioma

Glio

6;16

[19]

m.3242 A > G mtDNA mutation

Pateient fibroblasts

mtDNA/m.3243

6;6

[20]

Multiple sclerosis

Patient CD4 + T cells

MS/CD4

5;5

[21]

Multiple sclerosis

Patient CD19 + B cells

MS/CD19

6;6

[21]

Multiple sclerosis

Patient white matter lesions

MS/bl

25;72

[22]