Detalhe da pesquisa
1.
Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation.
Nucleic Acids Res
; 41(6): e67, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23303777
2.
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.
Genome Biol
; 18(1): 36, 2017 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28260531
3.
MAP kinase pathway alterations in BRAF-mutant melanoma patients with acquired resistance to combined RAF/MEK inhibition.
Cancer Discov
; 4(1): 61-8, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24265154
4.
Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine.
Nat Med
; 20(6): 682-8, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24836576
5.
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
Nat Genet
; 45(3): 299-303, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23396133
6.
A scalable, fully automated process for construction of sequence-ready barcoded libraries for 454.
Genome Biol
; 11(2): R15, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20137071