“Are we there yet?”: Deciding when one has demonstrated specific genetic causation in complex diseases and quantitative traits

GP Page, V George, RC Go, PZ Page… - The American Journal of …, 2003 - cell.com
Although mathematical relationships can be proven by deductive logic, biological
relationships can only be inferred from empirical observations. This is a distinct …

Haplotype‐association analysis

N Liu, K Zhang, H Zhao - Advances in genetics, 2008 - Elsevier
Association methods based on linkage disequilibrium (LD) offer a promising approach for
detecting genetic variations that are responsible for complex human diseases. Although …

Parametric and nonparametric linkage analysis: a unified multipoint approach

L Kruglyak, MJ Daly, MP Reeve-Daly… - American journal of …, 1996 - pmc.ncbi.nlm.nih.gov
In complex disease studies, it is crucial to perform multipoint linkage analysis with many
markers and to use robust nonparametric methods that take account of all pedigree …

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

C Boileau, DC Guo, N Hanna, ES Regalado… - Nature …, 2012 - nature.com
A predisposition for thoracic aortic aneurysms leading to acute aortic dissections can be
inherited in families in an autosomal dominant manner. Genome-wide linkage analysis of …

Genetic variation in the 6p22. 3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia

RE Straub, Y Jiang, CJ MacLean, Y Ma… - The American Journal of …, 2002 - cell.com
Prior evidence has supported the existence of multiple susceptibility genes for
schizophrenia. Multipoint linkage analysis of the 270 Irish high-density pedigrees that we …

ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF

JC Engert, P Bérubé, J Mercier, C Doré, P Lepage… - Nature …, 2000 - nature.com
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS or SACS) is an early
onset neurodegenerative disease with high prevalence (carrier frequency 1/22) in the …

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed …

PJ Ferguson, S Chen, MK Tayeh, L Ochoa… - Journal of medical …, 2005 - jmg.bmj.com
Background: Majeed syndrome is an autosomal recessive, autoinflammatory disorder
characterised by chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic …

Susceptibility loci for distinct components of developmental dyslexia on chromosomes 6 and 15

EL Grigorenko, FB Wood, MS Meyer… - American journal of …, 1997 - pmc.ncbi.nlm.nih.gov
Six extended dyslexic families with at least four affected individuals were genotyped with
markers in three chromosomal regions: 6p23-p21. 3, 15pter-qter, and 16pter-qter. Five …

HaploPainter: a tool for drawing pedigrees with complex haplotypes

H Thiele, P Nürnberg - Bioinformatics, 2005 - academic.oup.com
HaploPainter is a user-friendly pedigree-drawing application with special features for easy
visualization of complex haplotype information. It has been developed to facilitate gene …

A full genome screen for autism with evidence for linkage to a region on chromosome 7q

International Molecular Genetic Study of … - Human Molecular …, 1998 - academic.oup.com
Autism is characterized by impairments in reciprocal social interaction and communication,
and restricted and stereotyped patterns of interests and activities. Developmental difficulties …