Open Access Research article

Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor

Eric R Londin1, Margaret A Keller2, Michael R D'Andrea3, Kathleen Delgrosso45, Adam Ertel45, Saul Surrey6 and Paolo Fortina457*

Author Affiliations

1 Computational Medicine Center, Thomas Jefferson University Jefferson Medical College, Philadelphia, PA, USA

2 National Molecular Laboratory, American Red Cross, Philadelphia, PA, USA

3 The Coriell Institute for Medical Research, Camden, NJ, USA

4 Cancer Genomics Laboratory, Kimmel Cancer Center

5 Department of Cancer Biology, Cardeza Foundation for Hematological Research, Thomas Jefferson University Jefferson Medical College, Philadelphia PA, USA

6 Department of Medicine, Cardeza Foundation for Hematological Research, Thomas Jefferson University Jefferson Medical College, Philadelphia PA, USA

7 Department of Molecular Medicine, Universita' La Sapienza School of Medicine, Rome, Italy

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BMC Genomics 2011, 12:464  doi:10.1186/1471-2164-12-464

Published: 26 September 2011

Additional files

Additional file 1:

Family NINDS02540. Pedigree of family NINDS0254 used for exome sequencing.

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Additional file 2:

SNPs identified through exome sequencing. Table listing the SNPs identified through exome sequencing in the four family members.

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Additional file 3:

Summary of insertion-deletion variants identified. Table listing insertions-deletions identified through exome sequencing in the four family members.

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Additional file 4:

SNPs identified to be de novo in LCL samples. Table listing the 79 variants identified as being de novo.

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Additional file 5:

Characterization of the types of nucleotide changes observed. The table lists the type of observed nucleotide changes.

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Additional file 6:

SNPs selected for validation by Sanger sequencing. Table listing the variants chosen for follow-up with primer sequences used for PCR and Sanger sequencing.

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