J. Maguire

发表

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

M. DePristo, E. Banks, R. Poplin, 2011, Nature Genetics.

The genetic architecture of type 2 diabetes

Stephen C. J. Parker, Taylor J. Maxwell, Mauricio O. Carneiro, 2016, Nature.

The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits

Tanya M. Teslovich, Simon C. Potter, Cameron D. Palmer, 2012, PLoS genetics.

Integrative analysis of the melanoma transcriptome.

J. Maguire, A. Sivachenko, K. Cibulskis, 2010, Genome research.

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

Mauricio O. Carneiro, Tanya M. Teslovich, Kyle J. Gaulton, 2017, Diabetes.

Consortium, G.P A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073

Ken Chen, Joshua M. Korn, Afidalina Tumian, 2010 .

The genetic architecture of type 2 diabetes

Stephen C. J. Parker, Taylor J. Maxwell, Mauricio O. Carneiro, 2016, Nature.

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

Kyle A. Beauchamp, H. P. Kang, J. Maguire, 2018 .

Solution Hybrid Selection with Ultra-long Oligonucleotides for Massively Parallel Targeted Sequencing

J. Maguire, T. Fennell, S. Gabriel, 2009, Nature Biotechnology.

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Evan T. Geller, Emily L. Crawford, K. Roeder, 2012, Nature.

Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls

Kathryn Roeder, Stephan Ripke, Shannon Gross, 2013, PLoS genetics.

zCall: a rare variant caller for array-based genotyping: Genetics and population analysis

Patrick F. Sullivan, Menachem Fromer, Benjamin M. Neale, 2012, Bioinform..

Integrative analysis of the melanoma transcriptome Material Supplemental

J. Maguire, A. Sivachenko, K. Cibulskis, 2010 .

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

H. P. Kang, J. Maguire, Gregory J. Hogan, 2016, bioRxiv.

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

Irving E. Wang, J. Maguire, D. Muzzey, 2018, bioRxiv.

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

Irving E. Wang, J. Maguire, D. Muzzey, 2018, bioRxiv.

Correction: The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits

Tanya M. Teslovich, Simon C. Potter, Cameron D. Palmer, 2013, PLoS Genetics.

Development and validation of an expanded carrier screen that optimizes sensitivity via full-exon sequencing and panel-wide copy-number-variant identification

Kyle A. Beauchamp, H. P. Kang, J. Maguire, 2017, bioRxiv.

Design and validation of a next generation sequencing assay for hereditary breast and 2 ovarian cancer 3 4

H. P. Kang, J. Maguire, I. Haque, 2017 .

Design and validation of a next generation sequencing assay for hereditary breast and ovarian cancer

H. P. Kang, J. Maguire, R. Mar-Heyming, 2015 .

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

H. P. Kang, J. Maguire, R. Mar-Heyming, 2016, PeerJ.

Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction

Eric Banks, Sekar Kathiresan, Leif Groop, 2011, Nature Genetics.

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Taesung Park, Christian Gieger, Tien Yin Wong, 2017, Scientific Data.

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Evan T. Geller, Emily L. Crawford, K. Roeder, 2012, Nature.