McCarthy, Shane A.
Publications
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A reference panel of 64,976 haplotypes for genotype imputation.
Nature genetics 2016;48;10;1279-83
PUBMED: 27548312; PMC: 5388176; DOI: 10.1038/ng.3643
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A global reference for human genetic variation.
Nature 2015;526;7571;68-74
PUBMED: 26432245; PMC: 4750478; DOI: 10.1038/nature15393
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Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.
Nature communications 2015;6;8111
PUBMED: 26368830; PMC: 4579394; DOI: 10.1038/ncomms9111
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An integrated map of genetic variation from 1,092 human genomes.
Nature 2012;491;7422;56-65
PUBMED: 23128226; PMC: 3498066; DOI: 10.1038/nature11632
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Insights into hominid evolution from the gorilla genome sequence.
Nature 2012;483;7388;169-75
PUBMED: 22398555; PMC: 3303130; DOI: 10.1038/nature10842
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BCFtools/csq: haplotype-aware variant consequences.
Bioinformatics (Oxford, England) 2017;33;13;2037-2039
PUBMED: 28205675; PMC: 5870570; DOI: 10.1093/bioinformatics/btx100
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BCFtools/csq: haplotype-aware variant consequences.
Bioinformatics (Oxford, England) 2017;33;13;2037-2039
PUBMED: 28205675; PMC: 5870570; DOI: 10.1093/bioinformatics/btx100
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Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations.
Nature communications 2017;8;15927
PUBMED: 28643794; PMC: 5490002; DOI: 10.1038/ncomms15927
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Common genetic variation drives molecular heterogeneity in human iPSCs.
Nature 2017;546;7658;370-375
PUBMED: 28489815; PMC: 5524171; DOI: 10.1038/nature22403
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Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom.
European journal of human genetics : EJHG 2017;25;4;477-484
PUBMED: 28145424; PMC: 5346294; DOI: 10.1038/ejhg.2016.205
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Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7.
Nature genetics 2017;49;2;186-192
PUBMED: 28067910; PMC: 5289625; DOI: 10.1038/ng.3761
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Using reference-free compressed data structures to analyze sequencing reads from thousands of human genomes.
Genome research 2017;27;2;300-309
PUBMED: 27986821; PMC: 5287235; DOI: 10.1101/gr.211748.116
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Whole-exome sequencing of 228 patients with sporadic Parkinson's disease.
Scientific reports 2017;7;41188
PUBMED: 28117402; DOI: 10.1038/srep41188
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Reference-based phasing using the Haplotype Reference Consortium panel.
Nature genetics 2016;48;11;1443-1448
PUBMED: 27694958; PMC: 5096458; DOI: 10.1038/ng.3679
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A reference panel of 64,976 haplotypes for genotype imputation.
Nature genetics 2016;48;10;1279-83
PUBMED: 27548312; PMC: 5388176; DOI: 10.1038/ng.3643
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Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences.
Nature genetics 2016;48;6;593-9
PUBMED: 27111036; PMC: 4884158; DOI: 10.1038/ng.3559
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Health and population effects of rare gene knockouts in adult humans with related parents.
Science (New York, N.Y.) 2016;352;6284;474-7
PUBMED: 26940866; PMC: 4985238; DOI: 10.1126/science.aac8624
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Deep Roots for Aboriginal Australian Y Chromosomes.
Current biology : CB 2016;26;6;809-13
PUBMED: 26923783; PMC: 4819516; DOI: 10.1016/j.cub.2016.01.028
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A Method for Checking Genomic Integrity in Cultured Cell Lines from SNP Genotyping Data.
PloS one 2016;11;5;e0155014
PUBMED: 27176002; PMC: 4866717; DOI: 10.1371/journal.pone.0155014
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A global reference for human genetic variation.
Nature 2015;526;7571;68-74
PUBMED: 26432245; PMC: 4750478; DOI: 10.1038/nature15393
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An integrated map of structural variation in 2,504 human genomes.
Nature 2015;526;7571;75-81
PUBMED: 26432246; PMC: 4617611; DOI: 10.1038/nature15394
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Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.
Nature 2015;526;7571;112-7
PUBMED: 26367794; PMC: 4755714; DOI: 10.1038/nature14878
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Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.
Nature communications 2015;6;8111
PUBMED: 26368830; PMC: 4579394; DOI: 10.1038/ncomms9111
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Whole-genome sequence-based analysis of thyroid function.
Nature communications 2015;6;5681
PUBMED: 25743335; PMC: 4366514; DOI: 10.1038/ncomms6681
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A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.
Nature communications 2014;5;4871
PUBMED: 25225788; PMC: 4167609; DOI: 10.1038/ncomms5871
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A calibrated human Y-chromosomal phylogeny based on resequencing.
Genome research 2013;23;2;388-95
PUBMED: 23038768; PMC: 3561879; DOI: 10.1101/gr.143198.112
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Jdp2 downregulates Trp53 transcription to promote leukaemogenesis in the context of Trp53 heterozygosity.
Oncogene 2013;32;3;397-402
PUBMED: 22370638; PMC: 3550594; DOI: 10.1038/onc.2012.56
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An integrated map of genetic variation from 1,092 human genomes.
Nature 2012;491;7422;56-65
PUBMED: 23128226; PMC: 3498066; DOI: 10.1038/nature11632
-
Insights into hominid evolution from the gorilla genome sequence.
Nature 2012;483;7388;169-75
PUBMED: 22398555; PMC: 3303130; DOI: 10.1038/nature10842
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Path to fracture in granular flows: dynamics of contact networks.
Physical review. E, Statistical, nonlinear, and soft matter physics 2011;83;6 Pt 1;061303
PUBMED: 21797354; DOI: 10.1103/PhysRevE.83.061303