Literature DB >> 28986787

Copy Number Variation Analysis by Droplet Digital PCR.

Suvi K Härmälä1, Robert Butcher2, Chrissy H Roberts3.   

Abstract

The health impact of many copy number variants in our genome remains still largely to be discovered. Detecting and genotyping this often complex variation presents a technical challenge. Here we describe a 96-well format droplet digital PCR (ddPCR) protocol for genotyping a common copy variant in the human haptoglobin gene. ddPCR allows for high-throughput and accurate quantitation of gene copy numbers.

Entities:  

Keywords:  CNV; Copy number variation; Droplet digital PCR; Genotyping; HP; Haptoglobin; ddPCR

Mesh：

Substances：

Year:  2017        PMID： 28986787     DOI： 10.1007/978-1-4939-7231-9_9

Source DB:  PubMed          Journal:  Methods Mol Biol        ISSN： 1064-3745


  5 in total

1.  sBCMA Plasma Level Dynamics and Anti-BCMA CAR-T-Cell Treatment in Relapsed Multiple Myeloma.

Authors:  Katja Seipel; Naomi Porret; Gertrud Wiedemann; Barbara Jeker; Vera Ulrike Bacher; Thomas Pabst
Journal:  Curr Issues Mol Biol       Date:  2022-03-24       Impact factor: 2.976

2.  A novel urinary mRNA signature using the droplet digital polymerase chain reaction platform improves discrimination between prostate cancer and benign prostatic hyperplasia within the prostate-specific antigen gray zone.

Authors:  Ho Won Kang; Hee Youn Lee; Young Joon Byun; Pildu Jeong; Jin Sun Yoon; Dong Ho Kim; Won Tae Kim; Yong-June Kim; Sang-Cheol Lee; Seok Joong Yun; Wun-Jae Kim
Journal:  Investig Clin Urol       Date:  2020-05-29

Review 3.  Chimeric antigen receptor natural killer (CAR-NK) cell design and engineering for cancer therapy.

Authors:  Ying Gong; Roel G J Klein Wolterink; Jianxiang Wang; Gerard M J Bos; Wilfred T V Germeraad
Journal:  J Hematol Oncol       Date:  2021-05-01       Impact factor: 17.388

4.  Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease.

Authors:  Laurie A Robak; Renqian Du; Bo Yuan; Shen Gu; Isabel Alfradique-Dunham; Vismaya Kondapalli; Evelyn Hinojosa; Amanda Stillwell; Emily Young; Chaofan Zhang; Xiaofei Song; Haowei Du; Tomasz Gambin; Shalini N Jhangiani; Zeynep Coban Akdemir; Donna M Muzny; Anusha Tejomurtula; Owen A Ross; Chad Shaw; Joseph Jankovic; Weimin Bi; Jennifer E Posey; James R Lupski; Joshua M Shulman
Journal:  Neurol Genet       Date:  2020-07-28

5.  Development and Evaluation of a Droplet Digital PCR Assay for 8p23 β-Defensin Cluster Copy Number Determination.

Authors:  Tingting Wen; Xianghong Zhang; Christoph Lippuner; Marcel Schiff; Frank Stuber
Journal:  Mol Diagn Ther       Date:  2021-07-29       Impact factor: 4.074
  5 in total

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