Initial sequencing and analysis of the human genome

…, EC Uberbacher, M Frazier, RA Gibbs, DM Muzny… - 2001 -
The human genome holds an extraordinary trove of information about human development,
physiology, medicine and evolution. Here we report the results of an international
collaboration to produce and make freely available a draft sequence of the human genome.

The genome sequence of Drosophila melanogaster

…, M Moy, B Murphy, L Murphy, DM Muzny… - …, 2000 -
Abstract The fly Drosophila melanogaster is one of the most intensively studied organisms in
biology and serves as a model system for the investigation of many developmental and
cellular processes common to higher eukaryotes, including humans. We have determined

[HTML][HTML] Somatic mutations affect key pathways in lung adenocarcinoma

…, K Cibulskis, C Sougnez, H Greulich, DM Muzny… - Nature, 2008 -
Abstract Determining the genetic basis of cancer requires comprehensive analyses of large
collections of histopathologically well-classified primary tumours. Here we report the results
of a collaborative study to discover somatic mutations in 188 human lung adenocarcinomas.

[HTML][HTML] Genome sequence of the Brown Norway rat yields insights into mammalian evolution

ML Metzker, DM Muzny, EJ Sodergren, S Scherer… - 2004 -
The laboratory rat (Rattus norvegicus) is an indispensable tool in experimental medicine
and drug development, having made inestimable contributions to human health. We report
here the genome sequence of the Brown Norway (BN) rat strain. The sequence represents a

The complete genome of an individual by massively parallel DNA sequencing

…, Y Yuan, L Nazareth, X Qin, DM Muzny, M Margulies… - nature, 2008 -
Abstract The association of genetic variation with disease and drug response, and
improvements in nucleic acid technologies, have given great optimism for the impact of
'genomic medicine'. However, the formidable size of the diploid human genome 1,

Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1

…, L Treviño, JA Drummond, DM Muzny… - …, 2011 -
Abstract Head and neck squamous cell carcinoma (HNSCC) is the sixth most common
cancer worldwide. To explore the genetic origins of this cancer, we used whole-exome
sequencing and gene copy number analyses to study 32 primary tumors. Tumors from

[HTML][HTML] Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

…, N Kakkar, F Zhao, YQ Wu, M Wang, DM Muzny… - Nature, 2012 -
Abstract Pancreatic cancer is a highly lethal malignancy with few effective therapies. We
performed exome sequencing and copy number analysis to define genomic aberrations in a
prospectively accrued clinical cohort (n= 142) of early (stage I and II) sporadic pancreatic

[HTML][HTML] A framework for human microbiome research

…, V Magrini, JC Martin, M Mitreva, DM Muzny… - nature, 2012 -
Abstract A variety of microbial communities and their genes (microbiome) exist throughout
the human body, playing fundamental roles in human health and disease. The NIH funded
Human Microbiome Project (HMP) Consortium has established a population-scale

[HTML][HTML] Clinical whole-exome sequencing for the diagnosis of mendelian disorders

Y Yang, DM Muzny, JG Reid… - … England Journal of …, 2013 - Mass Medical Soc
Background Whole-exome sequencing is a diagnostic approach for the identification of
molecular defects in patients with suspected genetic disorders. Methods We developed
technical, bioinformatic, interpretive, and validation pipelines for whole-exome sequencing

[HTML][HTML] Whole-genome sequencing in a patient with Charcot–Marie–Tooth neuropathy

…, RK Irikat, W Tom, NJ Fantin, DM Muzny… - … England Journal of …, 2010 - Mass Medical Soc
Background Whole-genome sequencing may revolutionize medical diagnostics through
rapid identification of alleles that cause disease. However, even in cases with simple
patterns of inheritance and unambiguous diagnoses, the relationship between disease