Detalhe da pesquisa
1.
Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin.
Cell
; 164(1-2): 57-68, 2016 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-26771485
2.
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
; 614(7948): 564-571, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36755093
3.
STIGMA: Single-cell tissue-specific gene prioritization using machine learning.
Am J Hum Genet
; 111(2): 338-349, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38228144
4.
CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions.
Nucleic Acids Res
; 52(D1): D1143-D1154, 2024 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38183205
5.
A framework to score the effects of structural variants in health and disease.
Genome Res
; 32(4): 766-777, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35197310
6.
Predicting the pathogenicity of missense variants using features derived from AlphaFold2.
Bioinformatics
; 39(5)2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37084271
7.
A systematic evaluation of the design and context dependencies of massively parallel reporter assays.
Nat Methods
; 17(11): 1083-1091, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33046894
8.
Boosting tissue-specific prediction of active cis-regulatory regions through deep learning and Bayesian optimization techniques.
BMC Bioinformatics
; 23(Suppl 2): 154, 2022 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36510125
9.
STIGMA: Single-cell tissue-specific gene prioritization using machine learning.
Am J Hum Genet
; 111(3): 618, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38458167
10.
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
Am J Hum Genet
; 104(1): 35-44, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30554721
11.
Ancient gene flow from early modern humans into Eastern Neanderthals.
Nature
; 530(7591): 429-33, 2016 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26886800
12.
Systematic assays and resources for the functional annotation of non-coding variants.
Med Genet
; 34(4): 275-286, 2022 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37034418
13.
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
Am J Hum Genet
; 103(6): 968-975, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30414627
14.
HemoMIPs-Automated analysis and result reporting pipeline for targeted sequencing data.
PLoS Comput Biol
; 16(6): e1007956, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32497118
15.
CADD: predicting the deleteriousness of variants throughout the human genome.
Nucleic Acids Res
; 47(D1): D886-D894, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30371827
16.
A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity.
Genome Res
; 27(1): 38-52, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27831498
17.
The complete genome sequence of a Neanderthal from the Altai Mountains.
Nature
; 505(7481): 43-9, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24352235
18.
Concurrent genome and epigenome editing by CRISPR-mediated sequence replacement.
BMC Biol
; 17(1): 90, 2019 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31739790
19.
Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay.
Hum Mutat
; 40(9): 1280-1291, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31106481
20.
Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation.
J Inherit Metab Dis
; 42(5): 993-997, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30945312