Determination of RET Sequence Variation in an MEN2 Unaffected Cohort Using Multiple-Sample Pooling and Next-Generation Sequencing

Joint Authors

Stephens, J. E.
Perez, M.
Margraf, R. L.
Voelkerding, K. V.
Durtschi, J. D.

Source

Journal of Thyroid Research

Issue

Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-9, 9 p.

Publisher

Hindawi Publishing Corporation

Publication Date

2012-04-01

Country of Publication

Egypt

No. of Pages

9

Main Subjects

Biology
Diseases
Medicine

Abstract EN

Multisample, nonindexed pooling combined with next-generation sequencing (NGS) was used to discover RET proto-oncogene sequence variation within a cohort known to be unaffected by multiple endocrine neoplasia type 2 (MEN2).

DNA samples (113 Caucasians, 23 persons of other ethnicities) were amplified for RET intron 9 to intron 16 and then divided into 5 pools of <30 samples each before library prep and NGS.

Two controls were included in this study, a single sample and a pool of 50 samples that had been previously sequenced by the same NGS methods.

All 59 variants previously detected in the 50-pool control were present.

Of the 61 variants detected in the unaffected cohort, 20 variants were novel changes.

Several variants were validated by high-resolution melting analysis and Sanger sequencing, and their allelic frequencies correlated well with those determined by NGS.

The results from this unaffected cohort will be added to the RET MEN2 database.

American Psychological Association (APA)

Margraf, R. L.& Durtschi, J. D.& Stephens, J. E.& Perez, M.& Voelkerding, K. V.. 2012. Determination of RET Sequence Variation in an MEN2 Unaffected Cohort Using Multiple-Sample Pooling and Next-Generation Sequencing. Journal of Thyroid Research،Vol. 2012, no. 2012, pp.1-9.
https://search.emarefa.net/detail/BIM-463084

Modern Language Association (MLA)

Margraf, R. L.…[et al.]. Determination of RET Sequence Variation in an MEN2 Unaffected Cohort Using Multiple-Sample Pooling and Next-Generation Sequencing. Journal of Thyroid Research No. 2012 (2012), pp.1-9.
https://search.emarefa.net/detail/BIM-463084

American Medical Association (AMA)

Margraf, R. L.& Durtschi, J. D.& Stephens, J. E.& Perez, M.& Voelkerding, K. V.. Determination of RET Sequence Variation in an MEN2 Unaffected Cohort Using Multiple-Sample Pooling and Next-Generation Sequencing. Journal of Thyroid Research. 2012. Vol. 2012, no. 2012, pp.1-9.
https://search.emarefa.net/detail/BIM-463084

Data Type

Journal Articles

Language

English

Notes

Includes bibliographical references

Record ID

BIM-463084