Detalhe da pesquisa
1.
Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification.
Clin Chem
; 64(7): 1063-1073, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29760218
2.
Detecting clinically actionable variants in the 3' exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene.
BMC Med Genet
; 19(1): 176, 2018 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30268105
3.
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Nature
; 485(7397): 242-5, 2012 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22495311
4.
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.
PLoS Genet
; 9(4): e1003443, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23593035
5.
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits.
PLoS Genet
; 8(8): e1002793, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22876189
6.
Integrative analysis of the melanoma transcriptome.
Genome Res
; 20(4): 413-27, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20179022
7.
zCall: a rare variant caller for array-based genotyping: genetics and population analysis.
Bioinformatics
; 28(19): 2543-5, 2012 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22843986
8.
Chromosome-scale, haplotype-resolved assembly of human genomes.
Nat Biotechnol
; 39(3): 309-312, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33288905
9.
Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment.
PeerJ
; 5: e3046, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28243543
10.
Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing.
PeerJ
; 4: e2162, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27375968
11.
Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction.
Nat Genet
; 43(8): 801-5, 2011 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-21775993
12.
A framework for variation discovery and genotyping using next-generation DNA sequencing data.
Nat Genet
; 43(5): 491-8, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21478889
13.
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing.
Nat Biotechnol
; 27(2): 182-9, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19182786