Journal article

Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots

T Nguyen-Dumont, M Mahmoodi, F Hammet, T Tran, H Tsimiklis, GG Giles, JL Hopper, MC Southey, DJ Park

Analytical Biochemistry | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2015

Abstract

Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficient means of archiving sources of DNA, conferring great value to genetic screening methods that are compatible with this medium. We applied Hi-Plex to screen the breast cancer predisposition gene PALB2 in 93 Guthrie Card-derived DNA specimens previously characterized for PALB2 genetic variants via DNA derived from lymphoblastoid cell lines, whole blood, and buffy coat. Of the 93 archival Guthrie Card-derived DNAs, 92 (99%) were processed successfully and sequenced using approximately half of a MiSeq run. From these 92 DNAs, all 59 known variants were detected and n..

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Grants

Awarded by National Institutes of Health


Funding Acknowledgements

T.N-D. is a Susan G. Komen for the Cure Postdoctoral Fellow. M.C.S. is a National Health and Medical Research Council (NHMRC) Senior Research Fellow. The Australian Breast Cancer Family Registry (ABCFR, 1992-1995) was supported by the Australian NHMRC, the New South Wales Cancer Council, and the Victorian Health Promotion Foundation (Australia). We thank Margaret McCredie for a key role in the establishment and leadership of the ABCFR in Sydney, Australia, and the families who donated their time, information, and biospecimens. This work was supported by Grant UM1 CA164920 from the National Cancer Institute (NCI). The content of this article does not necessarily reflect the views or policies of the NCI or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. government or the BCFR. We thank Heather Thorne, Eveline Niedermayr, all of the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) research nurses and staff, the heads and staff of the Family Cancer Clinics, and the Clinical Follow-Up Study (funded 2001-2009 by NHMRC and currently by the National Breast Cancer Foundation [NBCF] and Cancer Australia, no. 628333) for their contributions to this resource and the many families who contribute to kConFab. kConFab is supported by grants from the NBCF; the NHMRC; the Queensland Cancer Fund; the Cancer Councils of New South Wales, Victoria, Tasmania, and South Australia; and the Cancer Foundation of Western Australia. This work was supported by the Australian NHMRC (APP1025879 and APP1029974), the National Institutes of Health (RO1CA155767), and a Victorian Life Sciences Computation Initiative (VLSCI, VR0182) on its Peak Computing Facility, an initiative of the Victorian government.