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Items: 5

1.

Detecting clinically actionable variants in the 3' exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene.

Gould GM, Grauman PV, Theilmann MR, Spurka L, Wang IE, Melroy LM, Chin RG, Hite DH, Chu CS, Maguire JR, Hogan GJ, Muzzey D.

BMC Med Genet. 2018 Sep 29;19(1):176. doi: 10.1186/s12881-018-0691-9.

2.

Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification.

Hogan GJ, Vysotskaia VS, Beauchamp KA, Seisenberger S, Grauman PV, Haas KR, Hong SH, Jeon D, Kash S, Lai HH, Melroy LM, Theilmann MR, Chu CS, Iori K, Maguire JR, Evans EA, Haque IS, Mar-Heyming R, Kang HP, Muzzey D.

Clin Chem. 2018 Jul;64(7):1063-1073. doi: 10.1373/clinchem.2018.286823. Epub 2018 May 14.

3.

Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment.

Vysotskaia VS, Hogan GJ, Gould GM, Wang X, Robertson AD, Haas KR, Theilmann MR, Spurka L, Grauman PV, Lai HH, Jeon D, Haliburton G, Leggett M, Chu CS, Iori K, Maguire JR, Ready K, Evans EA, Kang HP, Haque IS.

PeerJ. 2017 Feb 23;5:e3046. doi: 10.7717/peerj.3046. eCollection 2017.

4.

Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing.

Kang HP, Maguire JR, Chu CS, Haque IS, Lai H, Mar-Heyming R, Ready K, Vysotskaia VS, Evans EA.

PeerJ. 2016 Jun 28;4:e2162. doi: 10.7717/peerj.2162. eCollection 2016.

5.

A framework for variation discovery and genotyping using next-generation DNA sequencing data.

DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ.

Nat Genet. 2011 May;43(5):491-8. doi: 10.1038/ng.806. Epub 2011 Apr 10.

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