Genome-wide association studies
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …
across many genomes to find those statistically associated with a specific trait or disease …
Variant interpretation using population databases: Lessons from gnomAD
S Gudmundsson, M Singer‐Berk, NA Watts… - Human …, 2022 - Wiley Online Library
Reference population databases are an essential tool in variant and gene interpretation.
Their use guides the identification of pathogenic variants amidst the sea of benign variation …
Their use guides the identification of pathogenic variants amidst the sea of benign variation …
[HTML][HTML] Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals
We conduct a genome-wide association study (GWAS) of educational attainment (EA) in a
sample of~ 3 million individuals and identify 3,952 approximately uncorrelated genome …
sample of~ 3 million individuals and identify 3,952 approximately uncorrelated genome …
Global detection of human variants and isoforms by deep proteome sequencing
An average shotgun proteomics experiment detects approximately 10,000 human proteins
from a single sample. However, individual proteins are typically identified by peptide …
from a single sample. However, individual proteins are typically identified by peptide …
Mapping the human genetic architecture of COVID-19
Writing group Writing group leaders Pathak Gita A. 6 … - Nature, 2021 - nature.com
The genetic make-up of an individual contributes to the susceptibility and response to viral
infection. Although environmental, clinical and social factors have a role in the chance of …
infection. Although environmental, clinical and social factors have a role in the chance of …
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
Summary The 1000 Genomes Project (1kGP) is the largest fully open resource of whole-
genome sequencing (WGS) data consented for public distribution without access or use …
genome sequencing (WGS) data consented for public distribution without access or use …
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …
understanding human health and disease. Recent technological advances have made it …
Histopathologic and proteogenomic heterogeneity reveals features of clear cell renal cell carcinoma aggressiveness
Clear cell renal cell carcinomas (ccRCCs) represent∼ 75% of RCC cases and account for
most RCC-associated deaths. Inter-and intratumoral heterogeneity (ITH) results in varying …
most RCC-associated deaths. Inter-and intratumoral heterogeneity (ITH) results in varying …
[HTML][HTML] Probable pangolin origin of SARS-CoV-2 associated with the COVID-19 outbreak
An outbreak of coronavirus disease 2019 (COVID-19) caused by the 2019 novel coronavirus
(SARS-CoV-2) began in the city of Wuhan in China and has widely spread worldwide …
(SARS-CoV-2) began in the city of Wuhan in China and has widely spread worldwide …
Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype
The human reference genome represents only a small number of individuals, which limits its
usefulness for genotyping. We present a method named HISAT2 (hierarchical indexing for …
usefulness for genotyping. We present a method named HISAT2 (hierarchical indexing for …