Shane A. McCarthy
University of Cambridge
20 papers found
Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations
BCFtools/csq: haplotype-aware variant consequences
Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom
Whole-exome sequencing of 228 patients with sporadic Parkinson’s disease
Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences.
Health and population effects of rare gene knockouts in adult humans with related parents
Deep Roots for Aboriginal Australian Y Chromosomes
A reference panel of 64,976 haplotypes for genotype imputation
An integrated map of structural variation in 2,504 human genomes.
A global reference for human genetic variation
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
The UK10K project identifies rare variants in health and disease
Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture
A calibrated human Y-chromosomal phylogeny based on resequencing
Insights into hominid evolution from the gorilla genome sequence.
Jdp2 downregulates Trp53 transcription to promote leukaemogenesis in the context of Trp53 heterozygosity
Path to fracture in granular flows: Dynamics of contact networks
On the component structure of Script N = 1 supersymmetric nonlinear electrodynamics
Nonlinear Self-Duality and Supergravity
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