Attila Jones
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View article: Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes
Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes Open
Germline mutations modulate the risk of developing schizophrenia (SCZ). Much less is known about the role of mosaic somatic mutations in the context of SCZ. Deep (239×) whole-genome sequencing (WGS) of brain neurons from 61 SCZ cases and 2…
View article: Multi‐omics analyses highlight molecular differences between clinical and neuropathological diagnoses in Alzheimer's disease
Multi‐omics analyses highlight molecular differences between clinical and neuropathological diagnoses in Alzheimer's disease Open
Both clinical diagnosis and neuropathological diagnosis are commonly used in literature to categorize individuals as Alzheimer's disease (AD) or non‐AD in omics analyses. Whether these diagnostic strategies result in distinct profiles of m…
View article: Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability
Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability Open
We analyzed 131 human brains (44 neurotypical, 19 with Tourette syndrome, 9 with schizophrenia, and 59 with autism) for somatic mutations after whole genome sequencing to a depth of more than 200×. Typically, brains had 20 to 60 detectable…
View article: Enrichment of somatic mutations in schizophrenia brain targets prenatally active transcription factor bindings sites
Enrichment of somatic mutations in schizophrenia brain targets prenatally active transcription factor bindings sites Open
Schizophrenia (SCZ) is a complex neuropsychiatric disorder in which both germline genetic mutations and maternal factors, such as infection and immune activation, have been implicated, but how these two strikingly different mechanisms migh…
View article: Additional file 4 of Comprehensive identification of somatic nucleotide variants in human brain tissue
Additional file 4 of Comprehensive identification of somatic nucleotide variants in human brain tissue Open
Additional file 4:. Table S6. List of primers and probes used in ddPCR validation experiments.
View article: Additional file 2 of Comprehensive identification of somatic nucleotide variants in human brain tissue
Additional file 2 of Comprehensive identification of somatic nucleotide variants in human brain tissue Open
Additional file 2:. Table S2. List of 400 candidate SNVs chosen for validation experiments.
View article: Additional file 3 of Comprehensive identification of somatic nucleotide variants in human brain tissue
Additional file 3 of Comprehensive identification of somatic nucleotide variants in human brain tissue Open
Additional file 3:. Table S5. List of amplicon sequencing primers used to validate the 400 candidate mosaic SNVs.
View article: Comprehensive identification of somatic nucleotide variants in human brain tissue
Comprehensive identification of somatic nucleotide variants in human brain tissue Open
Post-zygotic mutations incurred during DNA replication, DNA repair, and other cellular processes lead to somatic mosaicism. Somatic mosaicism is an established cause of various diseases, including cancers. However, detecting mosaic variant…