Detalhe da pesquisa
1.
An integrated map of structural variation in 2,504 human genomes.
Nature
; 526(7571): 75-81, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26432246
2.
Systematic analysis of copy number variation associated with congenital diaphragmatic hernia.
Proc Natl Acad Sci U S A
; 115(20): 5247-5252, 2018 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29712845
3.
TeXP: Deconvolving the effects of pervasive and autonomous transcription of transposable elements.
PLoS Comput Biol
; 15(8): e1007293, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31425522
4.
Biological explanations for discordant noninvasive prenatal test results: Preliminary data and lessons learned.
Prenat Diagn
; 38(6): 445-458, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29633279
5.
JAX-CNV: A Whole-genome Sequencing-based Algorithm for Copy Number Detection at Clinical Grade Level.
Genomics Proteomics Bioinformatics
; 20(6): 1197-1206, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35085778
6.
De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes.
Eur J Hum Genet
; 27(7): 1121-1133, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30886340
7.
Multi-platform discovery of haplotype-resolved structural variation in human genomes.
Nat Commun
; 10(1): 1784, 2019 04 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30992455
8.
Multicolor Fluorescence In Situ Hybridization (FISH) Approaches for Simultaneous Analysis of the Entire Human Genome.
Curr Protoc Hum Genet
; 99(1): e70, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30215889
9.
High-resolution deconstruction of evolution induced by chemotherapy treatments in breast cancer xenografts.
Sci Rep
; 8(1): 17937, 2018 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30560892
10.
FusorSV: an algorithm for optimally combining data from multiple structural variation detection methods.
Genome Biol
; 19(1): 38, 2018 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29559002
11.
Array-Based Comparative Genomic Hybridization (aCGH).
Methods Mol Biol
; 1541: 167-179, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27910023
12.
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences.
Nat Genet
; 48(6): 593-9, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27111036