Detalhe da pesquisa
1.
The next-generation sequencing revolution and its impact on genomics.
Cell
; 155(1): 27-38, 2013 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-24074859
2.
Author Correction: Exome sequencing of Finnish isolates enhances rare-variant association power.
Nature
; 575(7783): E4, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31686056
3.
Exome sequencing of Finnish isolates enhances rare-variant association power.
Nature
; 572(7769): 323-328, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31367044
4.
Discovery and genotyping of structural variation from long-read haploid genome sequence data.
Genome Res
; 27(5): 677-685, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27895111
5.
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly.
Genome Res
; 27(5): 849-864, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28396521
6.
Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.
Am J Hum Genet
; 96(3): 397-411, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25704602
7.
Single haplotype assembly of the human genome from a hydatidiform mole.
Genome Res
; 24(12): 2066-76, 2014 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-25373144
8.
Genomic pathology of SLE-associated copy-number variation at the FCGR2C/FCGR3B/FCGR2B locus.
Am J Hum Genet
; 92(1): 28-40, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23261299
9.
Corrigendum: Discovery and genotyping of structural variation from long-read haploid genome sequence data.
Genome Res
; 28(1): 144, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29295848
10.
Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity.
Genes Immun
; 16(1): 24-34, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25338678
11.
Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.
Am J Hum Genet
; 90(4): 599-613, 2012 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22482802
12.
SeqAnt: a web service to rapidly identify and annotate DNA sequence variations.
BMC Bioinformatics
; 11: 471, 2010 Sep 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-20854673
13.
Grazing protozoa and the evolution of the Escherichia coli O157:H7 Shiga toxin-encoding prophage.
Proc Biol Sci
; 274(1621): 1921-9, 2007 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-17535798
14.
Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.
Sci Rep
; 5: 9124, 2015 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-25773295
15.
Extending reference assembly models.
Genome Biol
; 16: 13, 2015 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-25651527
16.
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.
Nat Genet
; 46(12): 1293-302, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326701
17.
A novel FAS mutation with variable expressivity in a family with unicentric and idiopathic multicentric Castleman disease.
Blood Adv
; 2(21): 2959-2963, 2018 11 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30404775
18.
Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder.
Mol Autism
; 3(1): 8, 2012 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-23020841
19.
Structural diversity and African origin of the 17q21.31 inversion polymorphism.
Nat Genet
; 44(8): 872-80, 2012 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22751100
20.
Microarray-based genomic selection for high-throughput resequencing.
Nat Methods
; 4(11): 907-9, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17934469