The MR-Base platform supports systematic causal inference across the human phenome
…, R Langdon, VY Tan, J Yarmolinsky, HA Shihab… - elife, 2018 - elifesciences.org
10.7554/eLife.34408.001 Results from genome-wide association studies (GWAS) can be
used to infer causal relationships between phenotypes, using a strategy known as 2-sample …
used to infer causal relationships between phenotypes, using a strategy known as 2-sample …
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models
The rate at which nonsynonymous single nucleotide polymorphisms (ns SNP s) are being
identified in the human genome is increasing dramatically owing to advances in whole‐…
identified in the human genome is increasing dramatically owing to advances in whole‐…
An integrative approach to predicting the functional effects of non-coding and coding sequence variation
Motivation: Technological advances have enabled the identification of an increasingly large
spectrum of single nucleotide variants within the human genome, many of which may be …
spectrum of single nucleotide variants within the human genome, many of which may be …
[HTML][HTML] Systematic identification of genetic influences on methylation across the human life course
Background The influence of genetic variation on complex diseases is potentially mediated
through a range of highly dynamic epigenetic processes exhibiting temporal variation during …
through a range of highly dynamic epigenetic processes exhibiting temporal variation during …
FATHMM-XF: accurate prediction of pathogenic point mutations via extended features
We present FATHMM-XF, a method for predicting pathogenic point mutations in the human
genome. Drawing on an extensive feature set, FATHMM-XF outperforms competitors on …
genome. Drawing on an extensive feature set, FATHMM-XF outperforms competitors on …
Maternal pre-pregnancy BMI and gestational weight gain, offspring DNA methylation and later offspring adiposity: findings from the Avon Longitudinal Study of Parents …
…, A Simpkin, M Suderman, HA Shihab… - International journal …, 2015 - academic.oup.com
Background: Evidence suggests that in utero exposure to undernutrition and overnutrition
might affect adiposity in later life. Epigenetic modification is suggested as a plausible …
might affect adiposity in later life. Epigenetic modification is suggested as a plausible …
Predicting the functional consequences of cancer-associated amino acid substitutions
Motivation: The number of missense mutations being identified in cancer genomes has greatly
increased as a consequence of technological advances and the reduced cost of whole-…
increased as a consequence of technological advances and the reduced cost of whole-…
[HTML][HTML] Ranking non-synonymous single nucleotide polymorphisms based on disease concepts
… The procedure for predicting the functional consequences of nsSNPs has been described
in Shihab et al. [3]. In brief, an ab initio hidden Markov model (HMM), representing the multiple …
in Shihab et al. [3]. In brief, an ab initio hidden Markov model (HMM), representing the multiple …
Importance of genetic studies in consanguineous populations for the characterization of novel human gene functions
AM Erzurumluoglu, HA Shihab… - Annals of human …, 2016 - Wiley Online Library
Consanguineous offspring have elevated levels of homozygosity. Autozygous stretches
within their genome are likely to harbour loss of function (LoF) mutations which will lead to …
within their genome are likely to harbour loss of function (LoF) mutations which will lead to …
Copy number variations and cognitive phenotypes in unselected populations
…, R Mägi, A Macé, B Cole, AL Guyatt, HA Shihab… - Jama, 2015 - jamanetwork.com
Importance The association of copy number variations (CNVs), differing numbers of copies
of genetic sequence at locations in the genome, with phenotypes such as intellectual …
of genetic sequence at locations in the genome, with phenotypes such as intellectual …