Detalhe da pesquisa
1.
A deep catalogue of protein-coding variation in 983,578 individuals.
Nature
; 2024 May 20.
Artigo
Inglês
| MEDLINE | ID: mdl-38768635
2.
Genotyping, sequencing and analysis of 140,000 adults from Mexico City.
Nature
; 622(7984): 784-793, 2023 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-37821707
3.
Personal omics profiling reveals dynamic molecular and medical phenotypes.
Cell
; 148(6): 1293-307, 2012 Mar 16.
Artigo
Inglês
| MEDLINE | ID: mdl-22424236
4.
Exome sequencing and analysis of 454,787 UK Biobank participants.
Nature
; 599(7886): 628-634, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34662886
5.
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Nature
; 586(7831): 749-756, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-33087929
6.
Germline Mutations in CIDEB and Protection against Liver Disease.
N Engl J Med
; 387(4): 332-344, 2022 07 28.
Artigo
Inglês
| MEDLINE | ID: mdl-35939579
7.
Author Correction: Genotyping, sequencing and analysis of 140,000 adults from Mexico City.
Nature
; 626(8001): E18, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38332034
8.
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.
Am J Hum Genet
; 102(5): 874-889, 2018 05 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29727688
9.
A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.
N Engl J Med
; 378(12): 1096-1106, 2018 03 22.
Artigo
Inglês
| MEDLINE | ID: mdl-29562163
10.
A comprehensive catalog of predicted functional upstream open reading frames in humans.
Nucleic Acids Res
; 46(7): 3326-3338, 2018 04 20.
Artigo
Inglês
| MEDLINE | ID: mdl-29562350
11.
MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants.
Nucleic Acids Res
; 45(18): 10393-10402, 2017 Oct 13.
Artigo
Inglês
| MEDLINE | ID: mdl-28977528
12.
Gene inactivation and its implications for annotation in the era of personal genomics.
Genes Dev
; 25(1): 1-10, 2011 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-21205862
13.
Comparative analysis of pseudogenes across three phyla.
Proc Natl Acad Sci U S A
; 111(37): 13361-6, 2014 Sep 16.
Artigo
Inglês
| MEDLINE | ID: mdl-25157146
14.
Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division.
Genome Res
; 23(12): 2042-52, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-24026178
15.
GENCODE: the reference human genome annotation for The ENCODE Project.
Genome Res
; 22(9): 1760-74, 2012 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-22955987
16.
VAT: a computational framework to functionally annotate variants in personal genomes within a cloud-computing environment.
Bioinformatics
; 28(17): 2267-9, 2012 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-22743228
17.
Rare coding variants in CHRNB2 reduce the likelihood of smoking.
Nat Genet
; 55(7): 1138-1148, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37308787
18.
A deep catalog of protein-coding variation in 985,830 individuals.
bioRxiv
; 2023 Nov 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37214792
19.
Prevalence of proximate risk factors of active tuberculosis in latent tuberculosis infection: A cross-sectional study from South India.
Front Public Health
; 10: 1011388, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36276400
20.
Seroprevalence of Strongyloides stercoralis infection in a South Indian adult population.
PLoS Negl Trop Dis
; 16(7): e0010561, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35857754