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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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一个零星的原发性免疫缺陷队列的全基因组测序

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
概括

在原发性免疫缺陷 (PID) 患者中,全基因组测序发现了新的遗传原因,并揭示了罕见和常见变异之间的相互作用. 这有助于对PID的诊断和免疫失调的理解.

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

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