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Updated: May 6, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

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散発性原発性免疫不全コホートの全ゲノムシーケンシング

James E D Thaventhiran1,2,3, Hana Lango Allen4,5,6,7, Oliver S Burren8,9

  • 1Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK. jedt2@cam.ac.uk.

Nature
|June 6, 2020
PubMed
まとめ

主要免疫不全 (PID) 患者における全ゲノム配列解析により,新しい遺伝的原因が特定され,稀な変異と一般的な変異の相互作用が明らかになった. これはPIDの診断と免疫不調の理解を進めている.

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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER14:06

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Published on: June 23, 2012

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VDJ-Seq: Deep Sequencing Analysis of Rearranged Immunoglobulin Heavy Chain Gene to Reveal Clonal Evolution Patterns of B Cell Lymphoma15:07

VDJ-Seq: Deep Sequencing Analysis of Rearranged Immunoglobulin Heavy Chain Gene to Reveal Clonal Evolution Patterns of B Cell Lymphoma

Published on: December 28, 2015

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