GWAS & Complex Disease

Identification of the genetic variants that influence complex human traits is key to understanding complex disease. Genome-wide association studies (GWAS) have identified some common variants associated with complex disease even though most such variants confer only modest risk. Whilst epidemiological studies are beginning to reveal gene-environment interactions, the advent of next generation sequencing technologies is opening up new possibilities to investigate the etiology of complex disease.


NSD1, EZH2 and DNMT3A Overgrowth Genes and Their Associated Overgrowth Syndromes
Katrina Tatton‐Brown
Published online: November 2014
Molecular Genetics of Chronic Lymphocytic Leukaemia
María Hernández‐Sánchez, Ana Eugenia Rodríguez Vicente, Jesús María Hernández‐Rivas
Published online: August 2014
Down Syndrome: Antenatal Screening Mathematics, Ethics and Its Implementation in the UK
Tim M Reynolds
Published online: August 2014
Upstream Open Reading Frames and Human Genetic Disease
Cristina Barbosa, Cláudia Onofre, Luísa Romão
Published online: August 2014
Molecular Mechanisms Underlying Pathogenic Missense Mutations
Bohua Wu, Julia Eggert, Emil Alexov
Published online: August 2014
The Molecular Genetics of Corticotroph Tumours
Dorota Dworakowska, Ashley B Grossman
Published online: July 2014
Genome‐wide Association Studies
Chee‐Seng Ku, Yudi Pawitan, Kee‐Seng Chia
Published online: March 2009
Role of Bioinformatics in Genome‐wide Association Studies
Diane Gilbert‐Diamond, Folkert W Asselbergs, Scott M Williams, Jason H Moore
Published online: October 2011
Genome‐wide Association Studies: The Success, Failure and Future
Ku Chee‐Seng, Loy En Yun, Pawitan Yudi, Chia Kee‐Seng
Published online: December 2009
The Winner's Curse
Hirofumi Nakaoka, Ituro Inoue
Published online: November 2010
Genetics of Non‐alcoholic Fatty Liver Disease
Ursa Kovac, Damjana Rozman
Published online: June 2015
Copy Number Variation in the Human Genome
Hildegard Kehrer‐Sawatzki
Published online: December 2007
Studying Genomic and Epigenetic Aberrations by Microarray Profiling
Logan C Walker, Katia Nones, Ann‐Marie Patch, Nicola Waddell
Published online: November 2016
Genome‐wide Association Studies of Cancers
Chee Seng Ku, Nasheen Naidoo, Mikael Hartman, Yudi Pawitan
Published online: December 2010
Genetic Epidemiology of Smoking Behaviour and Nicotine Dependence
Tellervo Korhonen, Jaakko Kaprio
Published online: September 2011
Molecular Genetics of Tourette Syndrome
Antoinette Valenti, Marco Grados
Published online: January 2012
Molecular Genetics of Susceptibility to Coronary Heart Disease
Iftikhar J Kullo, Keyue Ding
Published online: March 2009
The Molecular Genetics of Type 2 Diabetes: Past, Present and Future
Jonathan T Tan, Kee Seng Chia, Chee Seng Ku
Published online: December 2009
Molecular Genetics of Coeliac Disease
Vanisha Mistry, David van Heel
Published online: December 2011
Genetic Susceptibility to Autoimmune Disorders
Bernard R Lauwerys
Published online: June 2010
Molecular Genetics of Dilated Cardiomyopathy
Luisa Mestroni, Charles A Tharp, Mary E Sweet, Sharon L Graw, Matthew RG Taylor
Published online: June 2014
Molecular Genetics of Holt–Oram Syndrome
Phil Barnett, Alex V Postma
Published online: June 2014