Project description:Single cell transcriptome analysis of human pancreas reveals transcriptional signatures of aging and somatic mutation patterns.

| PRJNA322355 | ENA

Somatic Mutations and Cell Lineage in the Human Brain

Project description:<p>Genetic mutations causing human disease are conventionally thought to be inherited from one's parents and present in all somatic (body) cells. Increasingly however, somatic mutations are implicated in neurological diseases. Somatic mutations that arise during the cell divisions of prenatal brain development are inherited in clonal fashion and can cause neurodevelopmental diseases, even when present at low levels of mosaicism.</p> <p>In this study we use whole genome sequencing of single neurons and bulk tissue to identify somatic mutations in control, and some disease, brains to: 1) identify and catalogue the mutations which shape the somatic neuronal genome; 2) perform a cell lineage analysis of the adult human brain using clonal somatic mutations in cortical neurons; 3) determine patterns of somatic mutations at different ages and in aging related disease phenotypes; and 4) relate cell lineage patterns to cell phenotype in the human brain by separating neuronal, glial, and other cell types.</p>

| phs001485 | dbGaP

Project description:Single neuron CNV analysis in mouse brain

| PRJNA548496 | ENA

Project description:Diverse somatic mutation patterns and pathway alterations in human cancers

| PRJNA130735 | ENA

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Project description:Malformations of cortical development (MCD) are neurological conditions displaying focal disruption of cortical architecture and cellular organization arising during embryogenesis, largely from somatic mosaic mutations. Identifying the genetic causes of MCD has been a challenge, as mutations remain at low allelic fraction in brain tissue resected to treat epilepsy. Here, we report genetic atlas from 283 brain resections, identifying 69 mutated genes through intensive profiling of somatic mutations, combining whole-exome and targeted-amplicon sequencing with functional validation and single-cell sequencing. Genotype-phenotype correlation analysis elucidated specific MCD gene sets associating distinct pathophysiological and clinical phenotypes. Moreover, the unique spatiotemporal expression patterns deconvolved from single-nuclear transcriptional sequences of mutated genes in control and patient brains suggest critical roles driving excitatory neurogenic pools during brain development, and in establishing neuronal excitation after birth.

2022-11-17 | GSE218022 | GEO

A comprehensive gene profile investigation of the patients with high risk etiology of colorectal cancer

Project description:Interventions: We perform fenetic analysis of tumor, non-tumor, plasma, buffy coat of patients of colorectal cancer. Primary outcome(s): Somatic and germline mutation of cororeactal cancer. Study Design: Single arm Non-randomized

| 2638645 | ecrin-mdr-crc

Homo sapiens

Project description:Somatic mutation load in clones of single human cells

| PRJNA336369 | ENA