[HTML][HTML] The impact of rare and low-frequency genetic variants in common disease
Despite thousands of genetic loci identified to date, a large proportion of genetic variation
predisposing to complex disease and traits remains unaccounted for. Advances in …
predisposing to complex disease and traits remains unaccounted for. Advances in …
Next-generation association studies for complex traits
E Zeggini - Nature genetics, 2011 - nature.com
A new study successfully applies complementary whole-genome sequencing and
imputation approaches to establish robust disease associations in an isolated population …
imputation approaches to establish robust disease associations in an isolated population …
[引用][C] Genetic dissection of complex traits
JS Witte, RC Elston, NJ Schork - Nature genetics, 1996 - nature.com
Sir-A recent article in Nature Genetics by Lander and Krugylak1 proposed guidelines for
evaluation of results from linkage analyses of complex (multifactorial) genetic traits. We …
evaluation of results from linkage analyses of complex (multifactorial) genetic traits. We …
[HTML][HTML] Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
Purpose Given the rapid pace of discovery in rare disease genomics, it is likely that
improvements in diagnostic yield can be made by systematically reanalyzing previously …
improvements in diagnostic yield can be made by systematically reanalyzing previously …
Massively parallel sequencing and rare disease
SB Ng, DA Nickerson, MJ Bamshad… - Human molecular …, 2010 - academic.oup.com
Massively parallel sequencing has enabled the rapid, systematic identification of variants on
a large scale. This has, in turn, accelerated the pace of gene discovery and disease …
a large scale. This has, in turn, accelerated the pace of gene discovery and disease …
[HTML][HTML] Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios
Purpose: Despite the recognized clinical value of exome-based diagnostics, methods for
comprehensive genomic interpretation remain immature. Diagnoses are based on known or …
comprehensive genomic interpretation remain immature. Diagnoses are based on known or …
[HTML][HTML] Common and rare variants in multifactorial susceptibility to common diseases
Here, we give a historical overview of the search for genetic variants that influence the
susceptibility of an individual to a chronic disease, from RA Fisher's seminal work to the …
susceptibility of an individual to a chronic disease, from RA Fisher's seminal work to the …
[HTML][HTML] Burden testing of rare variants identified through exome sequencing via publicly available control data
The genetic causes of many Mendelian disorders remain undefined. Factors such as lack of
large multiplex families, locus heterogeneity, and incomplete penetrance hamper these …
large multiplex families, locus heterogeneity, and incomplete penetrance hamper these …
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases
OJ Buske, M Girdea, S Dumitriu, B Gallinger… - Human …, 2015 - Wiley Online Library
The discovery of disease‐causing mutations typically requires confirmation of the variant or
gene in multiple unrelated individuals, and a large number of rare genetic diseases remain …
gene in multiple unrelated individuals, and a large number of rare genetic diseases remain …
A high-resolution survey of deletion polymorphism in the human genome
Recent work has shown that copy number polymorphism is an important class of genetic
variation in human genomes,,,. Here we report a new method that uses SNP genotype data …
variation in human genomes,,,. Here we report a new method that uses SNP genotype data …