Detalhe da pesquisa
1.
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.
Genet Med
; 22(1): 85-94, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31358947
2.
Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL.
Br J Haematol
; 182(3): 412-417, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29808933
3.
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project.
Genet Med
; 20(10): 1196-1205, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29388947
4.
Whole-genome fetal and maternal DNA methylation analysis using MeDIP-NGS for the identification of differentially methylated regions.
Genet Res (Camb)
; 98: e15, 2016 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27834155
5.
FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.
Hum Mol Genet
; 20(10): 1925-36, 2011 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21349920
6.
KISSPLICE: de-novo calling alternative splicing events from RNA-seq data.
BMC Bioinformatics
; 13 Suppl 6: S5, 2012 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-22537044
7.
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features.
Nat Genet
; 54(11): 1675-1689, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36333502
8.
A fast and efficient algorithm for mapping short sequences to a reference genome.
Adv Exp Med Biol
; 680: 399-403, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20865524
9.
Clinical significance of TP53, BIRC3, ATM and MAPK-ERK genes in chronic lymphocytic leukaemia: data from the randomised UK LRF CLL4 trial.
Leukemia
; 34(7): 1760-1774, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32015491
10.
Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.
Cold Spring Harb Mol Case Stud
; 4(2)2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29610388
11.
Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer.
Cold Spring Harb Mol Case Stud
; 3(3): a001362, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28487881
12.
Bisulfite Conversion of DNA: Performance Comparison of Different Kits and Methylation Quantitation of Epigenetic Biomarkers that Have the Potential to Be Used in Non-Invasive Prenatal Testing.
PLoS One
; 10(8): e0135058, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26247357
13.
A case of sigmoid endometriosis difficult to differentiate from colon cancer.
BMC Gastroenterol
; 3: 18, 2003 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-12906714
14.
"Posterior-like" anterior peroral endoscopic myotomy: a novel concept.
Ann Gastroenterol
; 31(5): 635, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30174404
15.
Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.
Biomed Res Int
; 2013: 346762, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23555083
16.
Algorithms for mapping short degenerate and weighted sequences to a reference genome.
Int J Comput Biol Drug Des
; 2(4): 385-97, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-20090178
17.
Hypercoagulable states in patients with hepatocellular carcinoma.
Dig Dis Sci
; 49(5): 854-8, 2004 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15259509