Haplotype phasing: existing methods and new developments
SR Browning, BL Browning - Nature Reviews Genetics, 2011 - nature.com
Determination of haplotype phase is becoming increasingly important as we enter the era of
large-scale sequencing because many of its applications, such as imputing low-frequency …
large-scale sequencing because many of its applications, such as imputing low-frequency …
Genomics of cardiovascular disease
CJ O'Donnell, EG Nabel - New England journal of medicine, 2011 - Mass Medical Soc
Genomics of Cardiovascular Disease | New England Journal of Medicine Skip to main content
The New England Journal of Medicine homepage Advanced Search SEARCH SPECIALTIES …
The New England Journal of Medicine homepage Advanced Search SEARCH SPECIALTIES …
Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease
G Trynka, KA Hunt, NA Bockett, J Romanos, V Mistry… - Nature …, 2011 - nature.com
Using variants from the 1000 Genomes Project pilot European CEU dataset and data from
additional resequencing studies, we densely genotyped 183 non-HLA risk loci previously …
additional resequencing studies, we densely genotyped 183 non-HLA risk loci previously …
Mutations in BRIP1 confer high risk of ovarian cancer
T Rafnar, DF Gudbjartsson, P Sulem, A Jonasdottir… - Nature …, 2011 - nature.com
Ovarian cancer causes more deaths than any other gynecologic malignancy in developed
countries. Sixteen million sequence variants, identified through whole-genome sequencing …
countries. Sixteen million sequence variants, identified through whole-genome sequencing …
[HTML][HTML] Design and coverage of high throughput genotyping arrays optimized for individuals of East Asian, African American, and Latino race/ethnicity using …
TJ Hoffmann, Y Zhan, MN Kvale, SE Hesselson… - Genomics, 2011 - Elsevier
Four custom Axiom genotyping arrays were designed for a genome-wide association (GWA)
study of 100,000 participants from the Kaiser Permanente Research Program on Genes …
study of 100,000 participants from the Kaiser Permanente Research Program on Genes …
Whole exome and whole genome sequencing
D Bick, D Dimmock - Current opinion in pediatrics, 2011 - journals.lww.com
Whole exome and whole genome sequencing : Current Opinion in Pediatrics Whole exome
and whole genome sequencing : Current Opinion in Pediatrics Log in or Register Subscribe to …
and whole genome sequencing : Current Opinion in Pediatrics Log in or Register Subscribe to …
Identification of low-frequency variants associated with gout and serum uric acid levels
We tested 16 million SNPs, identified through whole-genome sequencing of 457 Icelanders,
for association with gout and serum uric acid levels. Genotypes were imputed into 41,675 …
for association with gout and serum uric acid levels. Genotypes were imputed into 41,675 …
Mapping rare and common causal alleles for complex human diseases
S Raychaudhuri - Cell, 2011 - cell.com
Advances in genotyping and sequencing technologies have revolutionized the genetics of
complex disease by locating rare and common variants that influence an individual's risk for …
complex disease by locating rare and common variants that influence an individual's risk for …
Current status of genome-wide association studies in cancer
CC Chung, SJ Chanock - Human genetics, 2011 - Springer
Genome-wide association studies in cancer have already identified over 150 regions
associated with two dozen specific cancers. Already, a handful of multi-cancer susceptibility …
associated with two dozen specific cancers. Already, a handful of multi-cancer susceptibility …
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 …