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Mind the gap: upgrading genomes with Pacific Biosciences RS long-read sequencing technology

PloS one, 2012-11, Vol.7 (11), p.e47768-e47768

2012

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PBHoney: identifying genomic variants via long-read discordance and interrupted mapping

BMC bioinformatics, 2014-06, Vol.15 (1), p.180-180, Article 180

2014

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Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease

The New England journal of medicine, 2016-03, Vol.374 (12), p.1123-1133

2016

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Genetic identification of familial hypercholesterolemia within a single U.S. health care system

Science (American Association for the Advancement of Science), 2016-12, Vol.354 (6319), p.1550-1550

2016

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Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population

JAMA psychiatry (Chicago, Ill.), 2020-12, Vol.77 (12), p.1276

2020

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Next-generation sequencing identifies rare variants associated with Noonan syndrome

Proceedings of the National Academy of Sciences - PNAS, 2014-08, Vol.111 (31), p.11473-11478

2014

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Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease

Scientific reports, 2021-03, Vol.11 (1), p.5595-5595, Article 5595

2021

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Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

Neuron (Cambridge, Mass.), 2013-01, Vol.77 (2), p.235-242

2013

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Whole-genome sequencing for optimized patient management

Science translational medicine, 2011-06, Vol.3 (87), p.87re3

2011

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Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease

Genome medicine, 2018-07, Vol.10 (1), p.56-56, Article 56

2018

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A Link between mir-100 and FRAP1/mTOR in Clear Cell Ovarian Cancer

Molecular endocrinology (Baltimore, Md.), 2010-02, Vol.24 (2), p.447-463

2010

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Discovery of novel microRNAs in female reproductive tract using next generation sequencing

PloS one, 2010-03, Vol.5 (3), p.e9637-e9637

2010

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Genomic diagnostics within a medically underserved population: efficacy and implications

Genetics in medicine, 2018-01, Vol.20 (1), p.31-41

2018

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Exome sequencing and characterization of 49,960 individuals in the UK Biobank

Nature (London), 2020-10, Vol.586 (7831), p.749-756

2020

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Characterization of single-nucleotide variation in Indian-origin rhesus macaques (Macaca mulatta)

BMC genomics, 2011-06, Vol.12 (1), p.311-311, Article 311

2011

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A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease

The New England journal of medicine, 2018-03, Vol.378 (12), p.1096-1106

2018

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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

The New England journal of medicine, 2013-10, Vol.369 (16), p.1502-1511

2013

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Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR Study

Science (American Association for the Advancement of Science), 2016-12, Vol.354 (6319), p.1549-1549

Dewey, Frederick E.

2016

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Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

BMC bioinformatics, 2014-01, Vol.15 (1), p.30-30, Article 30

2014

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Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes

Nature genetics, 2021-11, Vol.53 (11), p.1534-1542

2021

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Computational and transcriptional evidence for microRNAs in the honey bee genome

Genome biology, 2007-01, Vol.8 (6), p.R97-R97

2007

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Common and rare variant associations with clonal haematopoiesis phenotypes

Nature (London), 2022-12, Vol.612 (7939), p.301-309

2022

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Mind the gap: upgrading genomes with Pacific Biosciences RS long-read sequencing technology

PBHoney: identifying genomic variants via long-read discordance and interrupted mapping

Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population

Next-generation sequencing identifies rare variants associated with Noonan syndrome

Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease

Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

Whole-genome sequencing for optimized patient management

Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease

Assessing structural variation in a personal genome-towards a human reference diploid genome

A Link between mir-100 and FRAP1/mTOR in Clear Cell Ovarian Cancer

Discovery of novel microRNAs in female reproductive tract using next generation sequencing

Genomic diagnostics within a medically underserved population: efficacy and implications

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

Characterization of single-nucleotide variation in Indian-origin rhesus macaques (Macaca mulatta)

Exome sequencing and analysis of 454,787 UK Biobank participants

A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR Study

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes

Computational and transcriptional evidence for microRNAs in the honey bee genome

Common and rare variant associations with clonal haematopoiesis phenotypes

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