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 …

A new study successfully applies complementary whole-genome sequencing and
imputation approaches to establish robust disease associations in an isolated population …

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 …

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 …

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 …

Purpose: Despite the recognized clinical value of exome-based diagnostics, methods for
comprehensive genomic interpretation remain immature. Diagnoses are based on known or …

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 …

The genetic causes of many Mendelian disorders remain undefined. Factors such as lack of
large multiplex families, locus heterogeneity, and incomplete penetrance hamper these …

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 …

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 …