Detalhe da pesquisa
1.
Comprehensive, integrated, and phased whole-genome analysis of the primary ENCODE cell line K562.
Genome Res
; 29(3): 472-484, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30737237
2.
Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis.
J Med Genet
; 55(11): 735-743, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30061371
3.
Comprehensive performance comparison of high-resolution array platforms for genome-wide Copy Number Variation (CNV) analysis in humans.
BMC Genomics
; 18(1): 321, 2017 04 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-28438122
4.
Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss.
BMC Genomics
; 15: 1155, 2014 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25528277
5.
Impacts of variation in the human genome on gene regulation.
J Mol Biol
; 425(21): 3970-7, 2013 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23871684
6.
Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms.
PLoS One
; 6(11): e27859, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22140474