Human Genomics - oalib

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Human Genomics

ISSN Print: 1479-7364

ISSN Online:

主页: 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

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

A new home for Human Genomics

Vasilis Vasiliou, Daniel W Nebert

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

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

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

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

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

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

6th Golden Helix Pharmacogenomics Day: pharmacogenomics and individualized therapy

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

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

Chen Jian-Min,Cooper David N,Férec Claude

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

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

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

Sousounis Konstantinos,Tsonis Panagiotis A

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

Ku Chee-Seng,Vasiliou Vasilis,Cooper David N

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

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

Collaborative software for traditional and translational research

Berman Ari E,Barnett William K,Mooney Sean D

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

The human crystallin gene families

Wistow Graeme

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

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

Usability survey of biomedical question answering systems

Bauer Michael A,Berleant Daniel

Pseudoexfoliation syndrome, a systemic disorder with ocular manifestations

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

‘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

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

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

Lysosomal storage disorders: Molecular basis and laboratory testing

Mirella Filocamo, Amelia Morrone

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

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

Research Highlights

Robert I Scheinman

In-silico human genomics with GeneCards

Gil Stelzer, Irina Dalah, Tsippi Stein, Yigeal Satanower, Naomi Rosen, Noam Nativ, Danit Oz-Levi, Tsviya Olender, Frida Belinky, Iris Bahir, Hagit Krug, Paul Perco, Bernd Mayer, Eugene Kolker, Marilyn Safran, Doron Lancet

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

Tesfaye M Baye

Analysis of pharmacogenetic traits in two distinct South African populations

Ogechi Ikediobi, Bradley Aouizerat, Yuanyuan Xiao, Monica Gandhi, Stefan Gebhardt, Louise Warnich

Editorial

Vasilis Vasiliou

Update of the human secretoglobin (SCGB) gene superfamily and an example of 'evolutionary bloom' of androgen-binding protein genes within the mouse Scgb gene superfamily

Brian C Jackson, David C Thompson, Mathew W Wright, Monica McAndrews, Alfred Bernard, Daniel W Nebert, Vasilis Vasiliou

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

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

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

Rebecca L Smathers, Dennis R Petersen

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

Luis G Valerio

Naming 'junk': Human non-protein coding RNA (ncRNA) gene nomenclature

Mathew W Wright, Elspeth A Bruford

Databases and resources for human small non-coding RNAs

Eneritz Agirre, Eduardo Eyras

e-PKGene: A knowledge-based research tool for analysing the impact of genetics on drug exposure

Houda Hachad, Casey Overby, Sophie Argon, Catherine K Yeung, Isabelle Ragueneau-Majlessi, René H Levy

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

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

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

Editorial

Vasilis Vasiliou

The human sirtuin family: Evolutionary divergences and functions

Athanassios Vassilopoulos, Kristofer S Fritz, Dennis R Petersen, David Gius

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