Genotype imputation from large reference panels

S Das, GR Abecasis, BL Browning - Annual review of genomics …, 2018 - annualreviews.org
Genotype imputation has become a standard tool in genome-wide association studies
because it enables researchers to inexpensively approximate whole-genome sequence …

[HTML][HTML] A review of integrative imputation for multi-omics datasets

M Song, J Greenbaum, J Luttrell IV, W Zhou… - Frontiers in …, 2020 - frontiersin.org
Multi-omics studies, which explore the interactions between multiple types of biological
factors, have significant advantages over single-omics analysis for their ability to provide a …

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

V Trubetskoy, AF Pardiñas, T Qi, G Panagiotaropoulou… - Nature, 2022 - nature.com
Schizophrenia has a heritability of 60–80%, much of which is attributable to common risk
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …

Mapping genomic loci prioritises genes and implicates synaptic biology in schizophrenia

Schizophrenia Working Group of the Psychiatric … - MedRxiv, 2020 - medrxiv.org
Schizophrenia is a psychiatric disorder whose pathophysiology is largely unknown. It has a
heritability of 60-80%, much of which is attributable to common risk alleles, suggesting …

Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions

DM Howard, MJ Adams, TK Clarke, JD Hafferty… - Nature …, 2019 - nature.com
Major depression is a debilitating psychiatric illness that is typically associated with low
mood and anhedonia. Depression has a heritable component that has remained difficult to …

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

AV Khera, M Chaffin, KG Aragam, ME Haas, C Roselli… - Nature …, 2018 - nature.com
A key public health need is to identify individuals at high risk for a given disease to enable
enhanced screening or preventive therapies. Because most common diseases have a …

[PDF][PDF] A one-penny imputed genome from next-generation reference panels

BL Browning, Y Zhou, SR Browning - The American Journal of Human …, 2018 - cell.com
Genotype imputation is commonly performed in genome-wide association studies because it
greatly increases the number of markers that can be tested for association with a trait. In …

Meta-analysis of genome-wide association studies for height and body mass index in∼ 700000 individuals of European ancestry

L Yengo, J Sidorenko, KE Kemper… - Human molecular …, 2018 - academic.oup.com
Recent genome-wide association studies (GWAS) of height and body mass index (BMI) in∼
250000 European participants have led to the discovery of∼ 700 and∼ 100 nearly …

An atlas of genetic influences on osteoporosis in humans and mice

JA Morris, JP Kemp, SE Youlten, L Laurent, JG Logan… - Nature …, 2019 - nature.com
Osteoporosis is a common aging-related disease diagnosed primarily using bone mineral
density (BMD). We assessed genetic determinants of BMD as estimated by heel quantitative …

Minimal phenotyping yields genome-wide association signals of low specificity for major depression

N Cai, JA Revez, MJ Adams, TFM Andlauer, G Breen… - Nature …, 2020 - nature.com
Minimal phenotyping refers to the reliance on the use of a small number of self-reported
items for disease case identification, increasingly used in genome-wide association studies …