Detalhe da pesquisa
1.
The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models.
Cell
; 186(7): 1493-1511.e40, 2023 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37001506
2.
Passenger Mutations in More Than 2,500 Cancer Genomes: Overall Molecular Functional Impact and Consequences.
Cell
; 180(5): 915-927.e16, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32084333
3.
Deep profiling of protease substrate specificity enabled by dual random and scanned human proteome substrate phage libraries.
Proc Natl Acad Sci U S A
; 117(41): 25464-25475, 2020 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32973096
4.
Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing.
Cancer
; 128(4): 675-684, 2022 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34724198
5.
Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer.
Cancer
; 126(16): 3657-3666, 2020 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32413184
6.
Whole-genome analysis of papillary kidney cancer finds significant noncoding alterations.
PLoS Genet
; 13(3): e1006685, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28358873
7.
Landscape and variation of novel retroduplications in 26 human populations.
PLoS Comput Biol
; 13(6): e1005567, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28662076
8.
Next-Generation Sequencing to Diagnose Suspected Genetic Disorders.
N Engl J Med
; 380(2): 200, 2019 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30628427
9.
Molecular medicine tumor board: whole-genome sequencing to inform on personalized medicine for a man with advanced prostate cancer.
Prostate Cancer Prostatic Dis
; 24(3): 786-793, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568750
10.
Whole-genome sequencing of phenotypically distinct inflammatory breast cancers reveals similar genomic alterations to non-inflammatory breast cancers.
Genome Med
; 13(1): 70, 2021 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33902690
11.
Predicting the frequencies of drug side effects.
Nat Commun
; 11(1): 4575, 2020 09 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32917868
12.
Using sigLASSO to optimize cancer mutation signatures jointly with sampling likelihood.
Nat Commun
; 11(1): 3575, 2020 07 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681003
13.
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Nat Commun
; 11(1): 4748, 2020 09 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32958763
14.
Author Correction: Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Nat Commun
; 11(1): 6232, 2020 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33257764
15.
An integrative ENCODE resource for cancer genomics.
Nat Commun
; 11(1): 3696, 2020 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32728046
16.
Genomics and data science: an application within an umbrella.
Genome Biol
; 20(1): 109, 2019 05 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31142351
17.
Identifying Allosteric Hotspots with Dynamics: Application to Inter- and Intra-species Conservation.
Structure
; 24(5): 826-837, 2016 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27066750
18.
The real cost of sequencing: scaling computation to keep pace with data generation.
Genome Biol
; 17: 53, 2016 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-27009100
19.
Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms.
Nat Commun
; 6: 7256, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26028266
20.
Understanding genome structural variations.
Oncotarget
; 7(7): 7370-1, 2016 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26657727