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Human Genomics

ISSN Print: 1479-7364

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Website: http://www.humgenomics.com

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An essential reference for the drug safety practitioner

Monte Andrew A

Softwares and methods for estimating genetic ancestry in human populations

Liu Yushi,Nyunoya Toru,Leng Shuguang,Belinsky Steven A

GWIDD: a comprehensive resource for genome-wide structural modeling of protein-protein interactions

Petras J Kundrotas, Zhengwei Zhu, Ilya Vakser

The human protein disulfide isomerase gene family

James J Galligan, Dennis R Petersen

SNPTrackTM : an integrated bioinformatics system for genetic association studies

Joshua Xu, Reagan Kelly, Guangxu Zhou, Steven A Turner, Don Ding, Stephen C Harris, Huixiao Hong, Hong Fang, Weida Tong

A new home for Human Genomics

Vasilis Vasiliou, Daniel W Nebert

Gene family matters: expanding the HGNC resource

Louise C Daugherty, Ruth L Seal, Mathew W Wright, Elspeth A Bruford

Mitochondrial and nuclear genomics and the emergence of personalized medicine

Ryan L Parr, Luis Martin

Estimating ancestral proportions in a multi-ethnic US sample: implications for studies of admixed populations

Orna Levran, Olaoluwakitan Awolesi, Pei-Hong Shen, Miriam Adelson, Mary Jeanne Kreek

16th Carbonyl Metabolism Meeting: from enzymology to genomics

Maser Edmund

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

Alkindy Adila,Chuzhanova Nadia,Kini Usha,Cooper David N

Conservation of the three-dimensional structure in non-homologous or unrelated proteins

Sousounis Konstantinos,Haney Carl E,Cao Jin,Sunchu Bharath

Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics

Liu Melissa M,Chan Chi-Chao,Tuo Jingsheng

CXCL5 polymorphisms are associated with variable blood pressure in cardiovascular disease-free adults

Beitelshees Amber L,Aquilante Christina L,Allayee Hooman,Langaee Taimour Y

The human crystallin gene families

Wistow Graeme

A new era in the discovery of de novo mutations underlying human genetic disease

Ku Chee-Seng,Vasiliou Vasilis,Cooper David N

Patterns of gene expression in microarrays and expressed sequence tags from normal and cataractous lenses

Sousounis Konstantinos,Tsonis Panagiotis A

Strong interaction between T allele of endothelial nitric oxide synthase with B1 allele of cholesteryl ester transfer protein TaqIB highly elevates the risk of coronary artery disease and type 2 diabetes mellitus

Rahimi Zohreh,Nourozi-Rad Reza,Rahimi Ziba,Parsian Abbas

Review of “Molecules that Changed the World” by KC Nikolaou and T Montagnon

Tsonis Panagiotis A

Collaborative software for traditional and translational research

Berman Ari E,Barnett William K,Mooney Sean D

Local sequence determinants of two in-frame triplet deletion/duplication hotspots in the RHD/RHCE genes

Chen Jian-Min,Cooper David N,Férec Claude

6th Golden Helix Pharmacogenomics Day: pharmacogenomics and individualized therapy

Stojiljkovic Maja,Fazlagic Amira,Dokmanovic-Krivokapic Lidija,Nikcevic Gordana

Identification of functional DNA variants in the constitutive promoter region of MDM2

Lalonde Marie-Eve,Ouimet Manon,Larivière Mathieu,Kritikou Ekaterini A

Association of genome variations in the renin-angiotensin system with physical performance

Sgourou Argyro,Fotopoulos Vassilis,Kontos Vassilis,Patrinos George P

Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1

Thomas Laura,Mautner Victor-Felix,Cooper David N,Upadhyaya Meena

Usability survey of biomedical question answering systems

Bauer Michael A,Berleant Daniel

‘Sifting the significance from the data’ - the impact of high-throughput genomic technologies on human genetics and health care

Clarke Angus J,Cooper David N,Krawczak Michael,Tyler-Smith Chris

An emerging role for microRNAs in NF1 tumorigenesis

Sedani Ashni,Cooper David N,Upadhyaya Meena

Pseudoexfoliation syndrome, a systemic disorder with ocular manifestations

Elhawy Eman,Kamthan Gautam,Dong Cecilia Q,Danias John

Systems biology-based analysis implicates a novel role for vitamin D metabolism in the pathogenesis of age-related macular degeneration

Margaux A Morrison, Alexandra C Silveira, Nancy Huynh, Gyungah Jun, Silvia E Smith, Fani Zacharaki, Hajime Sato, Stephanie Loomis, Michael T Andreoli, Scott M Adams, Monte J Radeke, Austin S Jelcick, Yang Yuan, Aristoteles N Tsiloulis, Dimitrios Z Chatzoulis, Giuliana Silvestri, Maria G Kotoula, Evangelia E Tsironi, Bruce W Hollis, Rui Chen, Neena B Haider, Joan W Miller, Lindsay A Farrer, Gregory S Hageman, Ivana K Kim, Debra A Schaumberg, Margaret M DeAngelis

RGD: A comparative genomics platform

Mary Shimoyama, Jennifer R Smith, Tom Hayman, Stan Laulederkind, Tim Lowry, Rajni Nigam, Victoria Petri, Shur-Jen Wang, Melinda Dwinell, Howard Jacob, RGD Team

Lysosomal storage disorders: Molecular basis and laboratory testing

Mirella Filocamo, Amelia Morrone

The human fatty acid-binding protein family: Evolutionary divergences and functions

Rebecca L Smathers, Dennis R Petersen

Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis

Sebastian Spyk, Nick Thomas, David N Cooper, Meena Upadhyaya

Editorial

Vasilis Vasiliou

A review of software for microarray genotyping

Philippe Lamy, Jakob Grove, Carsten Wiuf

Evidence and Evolution: The logic behind the science

Christian P Robert

A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease

Stephen E Hamby, Nick ST Thomas, David N Cooper, Nadia Chuzhanova

Molecular Diagnostics

Jean-Jacques Cassiman

Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degeneration

Gregory S Hageman, Karen Gehrs, Serguei Lejnine, Aruna T Bansal, Margaret M DeAngelis, Robyn H Guymer, Paul N Baird, Rando Allikmets, Cosmin Deciu, Paul Oeth, Lorah T Perlee

Visionary genomics

J Petrash, Philip A Ruzycki, Gregory J Zablocki

Inter-chromosomal variation in the pattern of human population genetic structure

Tesfaye M Baye

Editorial

Vasilis Vasiliou

In silico toxicology models and databases as FDA Critical Path Initiative toolkits

Luis G Valerio

Difficulties in finding DNA mutations and associated phenotypic data in web resources using simple, uncomplicated search terms, and a suggested solution

Elizabeth A Webb, Timothy D Smith, Richard GH Cotton

A short survey of computational analysis methods in analysing ChIP-seq data

Hyunmin Kim, Jihye Kim, Heather Selby, Dexiang Gao, Tiejun Tong, Tzu Lip Phang, Aik Choon Tan

Research Highlights

Robert I Scheinman

Ancestry-informative markers on chromosomes 2, 8 and 15 are associated with insulin-related traits in a racially diverse sample of children

Yann C Klimentidis, Jasmin Divers, Krista Casazza, T Beasley, David B Allison, Jose R Fernandez

Overview of biological database mapping services for interoperation between different 'omics' datasets

Shweta S Chavan, John D Shaughnessy, Ricky D Edmondson

Outsmart your genes: How understanding your DNA will empower you to protect yourself against cancer, Alzheimer's, heart disease, obesity, and many other conditions

Andrea Hoffmann, Panagiotis A Tsonis

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