Demonstration of a complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis
Ontology highlight
ABSTRACT:
ORGANISM(S): Homo Sapiens (human)
SUBMITTER: Fumiaki Sakura
PROVIDER: PXD038352 | JPOST Repository | Sat Nov 25 00:00:00 GMT 2023
REPOSITORIES: jPOST
Publications
A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis.
Sakura Fumiaki F Noma Kosuke K Asano Takaki T Tanita Kay K Toyofuku Etsushi E Kato Kentaro K Tsumura Miyuki M Nihira Hiroshi H Izawa Kazushi K Mitsui-Sekinaka Kanako K Konno Ryo R Kawashima Yusuke Y Mizoguchi Yoko Y Karakawa Shuhei S Hayakawa Seiichi S Kawaguchi Hiroshi H Imai Kohsuke K Nonoyama Shigeaki S Yasumi Takahiro T Ohnishi Hidenori H Kanegane Hirokazu H Ohara Osamu O Okada Satoshi S
PNAS nexus 20230328 4
Advances in next-generation sequencing technology have identified many genes responsible for inborn errors of immunity (IEI). However, there is still room for improvement in the efficiency of genetic diagnosis. Recently, RNA sequencing and proteomics using peripheral blood mononuclear cells (PBMCs) have gained attention, but only some studies have integrated these analyses in IEI. Moreover, previous proteomic studies for PBMCs have achieved limited coverage (approximately 3000 proteins). More co ...[more]
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