Hashem A Shihab
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Explore the profile of Hashem A Shihab including associated specialties, affiliations and a list of published articles.
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25
Citations
5522
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Recent Articles
1.
Hemani G, Zheng J, Elsworth B, Wade K, Haberland V, Baird D, et al.
Elife
. 2018 May;
7.
PMID: 29846171
Results from genome-wide association studies (GWAS) can be used to infer causal relationships between phenotypes, using a strategy known as 2-sample Mendelian randomization (2SMR) and bypassing the need for individual-level...
2.
Ferlaino M, Rogers M, Shihab H, Mort M, Cooper D, Gaunt T, et al.
BMC Bioinformatics
. 2017 Oct;
18(1):442.
PMID: 28985712
Background: Small insertions and deletions (indels) have a significant influence in human disease and, in terms of frequency, they are second only to single nucleotide variants as pathogenic mutations. As...
3.
Rogers M, Shihab H, Mort M, Cooper D, Gaunt T, Campbell C
Bioinformatics
. 2017 Oct;
34(3):511-513.
PMID: 28968714
Summary: 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 benchmark tests, particularly in non-coding...
4.
Rogers M, Shihab H, Gaunt T, Campbell C
Sci Rep
. 2017 Sep;
7(1):11597.
PMID: 28912487
For somatic point mutations in coding and non-coding regions of the genome, we propose CScape, an integrative classifier for predicting the likelihood that mutations are cancer drivers. Tested on somatic...
5.
Tachmazidou I, Suveges D, Min J, Ritchie G, Steinberg J, Walter K, et al.
Am J Hum Genet
. 2017 May;
100(6):865-884.
PMID: 28552196
Deep sequence-based imputation can enhance the discovery power of genome-wide association studies by assessing previously unexplored variation across the common- and low-frequency spectra. We applied a hybrid whole-genome sequencing (WGS)...
6.
Rogers M, Shihab H, Ferlaino M, Gaunt T, Campbell C
Stud Health Technol Inform
. 2017 Apr;
235:91-95.
PMID: 28423762
Sequencing data will become widely available in clinical practice within the near future. Uptake of sequence data is currently being stimulated within the UK through the government-funded 100,000 genomes project...
7.
Elliott H, Shihab H, Lockett G, Holloway J, McRae A, Davey Smith G, et al.
Diabetes
. 2017 Mar;
66(6):1713-1722.
PMID: 28246294
Several studies have investigated the relationship between genetic variation and DNA methylation with respect to type 2 diabetes, but it is unknown if DNA methylation is a mediator in the...
8.
Shihab H, Rogers M, Campbell C, Gaunt T
Bioinformatics
. 2017 Feb;
33(12):1751-1757.
PMID: 28137713
Motivation: A major cause of autosomal dominant disease is haploinsufficiency, whereby a single copy of a gene is not sufficient to maintain the normal function of the gene. A large...
9.
Shihab H, Rogers M, Ferlaino M, Campbell C, Gaunt T
BMC Bioinformatics
. 2017 Jan;
18(1):20.
PMID: 28061747
Background: Accurate methods capable of predicting the impact of single nucleotide variants (SNVs) are assuming ever increasing importance. There exists a plethora of in silico algorithms designed to help identify...
10.
Richardson T, Shihab H, Hemani G, Zheng J, Hannon E, Mill J, et al.
Hum Mol Genet
. 2016 Aug;
25(19):4339-4349.
PMID: 27559110
Background: Single variant approaches have been successful in identifying DNA methylation quantitative trait loci (mQTL), although as with complex traits they lack the statistical power to identify the effects from...