WES of Jianwei Dong - SRA

SRX13131710: WES of Jianwei Dong
1 ILLUMINA (Illumina NovaSeq 6000) run: 38.8M spots, 11.6G bases, 3.4Gb downloads

Design: DNA libraries were constructed using the KAPA Library Preparation Kit (Kapa Biosystems, KR0453), and the DNA concentration was estimated using the Qubit dsDNA HS Assay kit (Invitrogen, Q32851). Exome capture was performed using the IDT xGen Exome Research Panel v1 (Integrated DNA Technologies, USA), according to the manufacturers instruction.

Submitted by: Beijing Tiantan Hospital, Capital Medical University

Study: Novel c.2654+1G>A Mutation in the CSF1R Gene in a Family with CSF1R-Microglial Encephalopathy

PRJNA780236 • SRP345980 • All experiments • All runs

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The colony-stimulating factor-1 receptor (CSF1R) is a transmembrane tyrosine kinase receptor that is mainly expressed in the brain-resident microglia. Thus, microglial dysfunction due to CSF1R mutation may play a primary and pivotal role in the pathogenesis of CSF1R-microglial encephalopathy. Neither the functional consequences of all known CSF1R mutations nor the full genetic spectrum of mutations causing CSF1R-microglial encephalopathy have been fully elucidated. We aimed to describe a novel heterozygous splicing variant of the CSF1R gene that caused CSF1R-microglial encephalopathy in a Han Chinese family.

Sample:

SAMN23133224 • SRS11065497 • All experiments • All runs

Organism: Homo sapiens

Library:

Name: CSF1R-Proband -12

Instrument: Illumina NovaSeq 6000

Strategy: WXS

Source: GENOMIC

Selection: Hybrid Selection

Layout: PAIRED

Runs: 1 run, 38.8M spots, 11.6G bases, 3.4Gb

Run	# of Spots	# of Bases	Size	Published
SRR16939752	38,779,656	11.6G	3.4Gb	2021-11-14

ID:: 17907322

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