Detalhe da pesquisa
1.
Plasma proteomic associations with genetics and health in the UK Biobank.
Nature
; 622(7982): 329-338, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794186
2.
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
3.
A high throughput screen for active human transposable elements.
BMC Genomics
; 19(1): 115, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29390960
4.
Strong heterogeneity in mutation rate causes misleading hallmarks of natural selection on indel mutations in the human genome.
Mol Biol Evol
; 31(1): 23-36, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24113537
5.
The (r)evolution of SINE versus LINE distributions in primate genomes: sex chromosomes are important.
Genome Res
; 20(5): 600-13, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20219940
6.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Genome Med
; 15(1): 94, 2023 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37946251
7.
A macaque's-eye view of human insertions and deletions: differences in mechanisms.
PLoS Comput Biol
; 3(9): 1772-82, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17941704
8.
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
9.
Ride the wavelet: A multiscale analysis of genomic contexts flanking small insertions and deletions.
Genome Res
; 19(7): 1153-64, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19502380