User profiles for L. Bottolo

Leonardo Bottolo

Reader in Statistics for Biomedicine, Dept of Medical Genetics, University of Cambridge
Verified email at cam.ac.uk
Cited by 18096

Deciphering the complex: Methodological overview of statistical models to derive OMICS‐based biomarkers

…, T Jombart, L Bottolo, L Portengen… - Environmental and …, 2013 - Wiley Online Library
… Its constraint is defined as a convex combination of the L 1 and L 2 norms of the regression
coefficients parameterized by an additional calibration parameter λ. The two extreme cases λ …

A fine-scale map of recombination rates and hotspots across the human genome

S Myers, L Bottolo, C Freeman, G McVean, P Donnelly - Science, 2005 - science.org
Genetic maps, which document the way in which recombination rates vary over a genome,
are an essential tool for many genetic analyses. We present a high-resolution genetic map of …

A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk

M Heinig, E Petretto, C Wallace, L Bottolo, M Rotival… - Nature, 2010 - nature.com
Combined analyses of gene networks and DNA sequence variation can provide new
insights into the aetiology of common diseases that may not be apparent from genome-wide …

Low copy number of the salivary amylase gene predisposes to obesity

…, PH Sudmant, R Dorajoo, MN Al-Shafai, L Bottolo… - Nature …, 2014 - nature.com
Common multi-allelic copy number variants (CNVs) appear enriched for phenotypic associations
compared to their biallelic counterparts 1 , 2 , 3 , 4 . Here we investigated the influence …

Evolutionary stochastic search for Bayesian model exploration

L Bottolo, S Richardson - 2010 - projecteuclid.org
… Among the population of chains, we identify a group L, 1 ≤ LL… First of all, we fix the size
L of the population. In doing this, we … We have experimented and we recommend to fix L ≥ 3. …

Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function

…, J Ye, R Ahmed, XM Sun, A Serafín, J Ware, L Bottolo… - Nature, 2011 - nature.com
Left ventricular mass (LVM) is a highly heritable trait 1 and an independent risk factor for all-cause
mortality 2 . So far, genome-wide association studies have not identified the genetic …

[HTML][HTML] Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus

MR Johnson, J Behmoaras, L Bottolo… - Nature …, 2015 - nature.com
Gene-regulatory network analysis is a powerful approach to elucidate the molecular
processes and pathways underlying complex disease. Here we employ systems genetics …

Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease

…, DC Liewald, A Visconti, M Falchi, L Bottolo… - Nature …, 2016 - nature.com
Genetic determinants of cognition are poorly characterized, and their relationship to genes
that confer risk for neurodevelopmental disease is unclear. Here we performed a systems-…

Prioritizing the role of major lipoproteins and subfractions as risk factors for peripheral artery disease

…, D Klarin, J Lynch, R Malik, AW Aday, L Bottolo… - Circulation, 2021 - Am Heart Assoc
Background: Lipoprotein-related traits have been consistently identified as risk factors for
atherosclerotic cardiovascular disease, largely on the basis of studies of coronary artery …

Metabolic effects of bezafibrate in mitochondrial disease

…, AJ Robinson, RW Taylor, L Bottolo… - EMBO molecular …, 2020 - embopress.org
Mitochondrial disorders affect 1/5,000 and have no cure. Inducing mitochondrial biogenesis
with bezafibrate improves mitochondrial function in animal models, but there are no …