Literature DB >> 21480183

Targeted sequencing using Affymetrix CustomSeq Arrays.

Polakit Teekakirikul1, Stephanie Cox, Birgit Funke, Heidi L Rehm.   

Abstract

This unit provides a basic protocol for oligo hybridization-based sequencing technology and resulting data analysis specific to the Affymetrix GeneChip CustomSeq Resequencing Array platform. All steps and critical aspects related to array design, experimental protocols, data management, and base-calling algorithms are addressed. This unit is particularly appropriate for sequencing targeted regions of the genome of up to 300 kilobases. The basic technology is most suitable for detecting substitution mutations, unless targeted indel probes are added. 2011 by John Wiley & Sons, Inc.

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Year:  2011        PMID: 21480183      PMCID: PMC4528188          DOI: 10.1002/0471142905.hg0718s69

Source DB:  PubMed          Journal:  Curr Protoc Hum Genet        ISSN: 1934-8258


  2 in total

1.  High-throughput variation detection and genotyping using microarrays.

Authors:  D J Cutler; M E Zwick; M M Carrasquillo; C T Yohn; K P Tobin; C Kashuk; D J Mathews; N A Shah; E E Eichler; J A Warrington; A Chakravarti
Journal:  Genome Res       Date:  2001-11       Impact factor: 9.043

2.  A novel custom resequencing array for dilated cardiomyopathy.

Authors:  Rebekah S Zimmerman; Stephanie Cox; Neal K Lakdawala; Allison Cirino; Debora Mancini-DiNardo; Eugene Clark; Annette Leon; Elizabeth Duffy; Emily White; Samantha Baxter; Manal Alaamery; Lisa Farwell; Scott Weiss; Christine E Seidman; Jonathan G Seidman; Carolyn Y Ho; Heidi L Rehm; Birgit H Funke
Journal:  Genet Med       Date:  2010-05       Impact factor: 8.822

  2 in total
  5 in total

Review 1.  Disease-targeted sequencing: a cornerstone in the clinic.

Authors:  Heidi L Rehm
Journal:  Nat Rev Genet       Date:  2013-03-12       Impact factor: 53.242

2.  Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.

Authors:  Salma Ben-Salem; Heidi L Rehm; Patrick J Willems; Zakaria A Tamimi; Hammadi Ayadi; Bassam R Ali; Lihadh Al-Gazali
Journal:  Mol Biol Rep       Date:  2013-11-06       Impact factor: 2.316

3.  Development of a high-throughput resequencing array for the detection of pathogenic mutations in osteogenesis imperfecta.

Authors:  Yao Wang; Yazhou Cui; Xiaoyan Zhou; Jinxiang Han
Journal:  PLoS One       Date:  2015-03-05       Impact factor: 3.240

4.  The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers.

Authors:  Heidi L Rehm; Elizabeth Hynes; Birgit H Funke
Journal:  J Pers Med       Date:  2016-01-27

Review 5.  Hypertrophic Cardiomyopathy: An Overview of Genetics and Management.

Authors:  Polakit Teekakirikul; Wenjuan Zhu; Helen C Huang; Erik Fung
Journal:  Biomolecules       Date:  2019-12-16
  5 in total

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