Shane McCarthy

发表

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Tom R. Gaunt, Klaudia Walter, Nicholas J Timpson, 2015, Nature Communications.

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

Gail Clement, Jie Huang, Antonio Ciampi, 2014, Nature Communications.

A calibrated human Y-chromosomal phylogeny based on resequencing

Ignazio Carbone, Yali Xue, Chris Tyler-Smith, 2013, Genome research.

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

Jie Huang, Inês Barroso, Tom R. Gaunt, 2017, American journal of human genetics.

Exploring the genetic architecture of inflammatory bowel disease

Loukas Moutsianas, Alison Simmons, Joshua Randall, 2016 .

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Gail Clement, Jie Huang, Inês Barroso, 2016, Nature Communications.

A reference panel of 64,976 haplotypes for genotype imputation

Laura J. Scott, He Zhang, Gonçalo Abecasis, 2015, bioRxiv.

Edinburgh Explorer Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

Beth Wilmot, Joel Eriksson, Jie Huang, 2022 .

Health and population effects of rare gene knockouts in adult humans with related parents

Harry Hemingway, Richard Durbin, Daniel G. MacArthur, 2015, Science.

Exploring the genetic architecture of inflammatory bowel disease by whole genome sequencing identifies association at ADCY7

Tariq Ahmad, Loukas Moutsianas, Alison Simmons, 2016 .

Whole-genome sequence-based analysis of thyroid function

Jie Huang, Tom R. Gaunt, Klaudia Walter, 2015, Nature communications.