A. Giuffre
Agilent Technologies
4 Papers
6 Citations
A. Giuffre is an academic researcher from Agilent Technologies. The author has contributed to research in topics: Genome-wide association study & Hybridization probe. The author has an hindex of 3, co-authored 4 publications.
Chat about Author
Papers
Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants
A. Eliot Shearer,Robert W. Eppsteiner,Kevin T. Booth,Sean S. Ephraim,Jose Gurrola,Allen C. Simpson,E. Ann Black-Ziegelbein,Swati Joshi,Harini Ravi,A. Giuffre,Scott Happe,Michael S. Hildebrand,Hela Azaiez,Yıldırım Ahmet Bayazıt,Mehmet Emin Erdal,Jose A. Lopez-Escamez,Irene Gazquez,Marta L. Tamayo,Nancy Gelvez,Greizy López Leal,Chaim Jalas,Josef Ekstein,Tao Yang,Shin-ichi Usami,Kimia Kahrizi,Niloofar Bazazzadegan,Hossein Najmabadi,Todd E. Scheetz,Terry A. Braun,Thomas L. Casavant,Emily M LeProust,Richard J.H. Smith,Richard J.H. Smith +32 more
TL;DR: Evaluation of reported pathogenic deafness variants using variant MAFs from multiple distinct ethnicities and sequenced by orthogonal methods provides a powerful filter for determining pathogenicity, and proposed MAF thresholds will facilitate clinical interpretation of variants identified in genetic testing for NSHL.
160
•Journal Article
The Agilent Technologies' SureSelect™ All Exon Product Portfolio: High Performance Target Enrichment System for Human and Mouse Exome Sequencing on Illumina and SOLiD Platforms
A. Giuffre,C. Pabon-Pena,B. Novak,S. Joshi,J. Ong,M. Visitacion,M. Hamady,F. Useche,J. Eberle,S. Hunt,S. Happe,D. Roberts,E. Leproust,Harini Ravi +13 more
TL;DR: High performance with respect to capture efficiency, uniformity, reproducibility of enrichment, and ability to detect SNPs, insertion/deletions, and CNVs across Illumina (Genome Analyzer IIx and HiSeq2000) and SOLiD platforms is demonstrated.
4
Enrichment of sequencing targets from the human genome by solution hybridization
Ryan Tewhey,Ryan Tewhey,Masakazu Nakano,Masakazu Nakano,Xiaoyun Wang,Xiaoyun Wang,Carlos Pabón-Peña,Barbara Novak,A. Giuffre,Eric Lin,Scott Happe,Doug N Roberts,Emily M LeProust,Eric J. Topol,Olivier Harismendy,Olivier Harismendy,Kelly A. Frazer,Kelly A. Frazer +17 more
TL;DR: It is demonstrated that the tiling probe frequency is important for generating sequence data with high uniform coverage of targets, and 93% sensitivity to detect SNPs, with a calling accuracy greater than 99%.