Sarah E Hunt
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Explore the profile of Sarah E Hunt including associated specialties, affiliations and a list of published articles.
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61
Citations
22041
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Recent Articles
1.
Dyer S, Austine-Orimoloye O, Azov A, Barba M, Barnes I, Barrera-Enriquez V, et al.
Nucleic Acids Res
. 2024 Dec;
53(D1):D948-D957.
PMID: 39656687
Ensembl (www.ensembl.org) is an open platform integrating publicly available genomics data across the tree of life with a focus on eukaryotic species related to human health, agriculture and biodiversity. This...
2.
Thakur M, Brooksbank C, Finn R, Firth H, Foreman J, Freeberg M, et al.
Nucleic Acids Res
. 2024 Nov;
53(D1):D10-D19.
PMID: 39607697
The European Molecular Biology Laboratory's European Bioinformatics Institute (EMBL-EBI) is one of the world's leading sources of public biomolecular data. Based at the Wellcome Genome Campus in Hinxton, UK, EMBL-EBI...
3.
Yates T, Ansari M, Thompson L, Hunt S, Uhalte E, Hobson R, et al.
Genome Med
. 2024 Nov;
16(1):127.
PMID: 39506859
Genetically determined disorders are highly heterogenous in clinical presentation and underlying molecular mechanism. The evidence underpinning these conditions in the peer-reviewed literature requires robust critical evaluation for diagnostic use. Here,...
4.
Logsdon G, Ebert P, Audano P, Loftus M, Porubsky D, Ebler J, et al.
bioRxiv
. 2024 Oct;
PMID: 39372794
Diverse sets of complete human genomes are required to construct a pangenome reference and to understand the extent of complex structural variation. Here, we sequence 65 diverse human genomes and...
5.
Arbesfeld J, Da E, Stevenson J, Kuzma K, Paul A, Farris T, et al.
bioRxiv
. 2024 Jul;
PMID: 38979347
The large-scale experimental measures of variant functional assays submitted to MaveDB have the potential to provide key information for resolving variants of uncertain significance, but the reporting of results relative...
6.
Harrison P, Amode M, Austine-Orimoloye O, Azov A, Barba M, Barnes I, et al.
Nucleic Acids Res
. 2023 Nov;
52(D1):D891-D899.
PMID: 37953337
Ensembl (https://www.ensembl.org) is a freely available genomic resource that has produced high-quality annotations, tools, and services for vertebrates and model organisms for more than two decades. In recent years, there...
7.
Rhie A, Nurk S, Cechova M, Hoyt S, Taylor D, Altemose N, et al.
Nature
. 2023 Aug;
621(7978):344-354.
PMID: 37612512
The human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure that includes long palindromes, tandem repeats and segmental duplications. As a result,...
8.
Foreman J, Perrett D, Mazaika E, Hunt S, Ware J, Firth H
Annu Rev Genomics Hum Genet
. 2023 Jun;
24:151-176.
PMID: 37285546
DECIPHER (atabas of Genomi Varation and henotype in umans Using nsembl esources) shares candidate diagnostic variants and phenotypic data from patients with genetic disorders to facilitate research and improve the...
9.
Salz R, Saraiva-Agostinho N, Vorsteveld E, van der Made C, Kersten S, Stemerdink M, et al.
BMC Genomics
. 2023 Jun;
24(1):305.
PMID: 37280537
Our incomplete knowledge of the human transcriptome impairs the detection of disease-causing variants, in particular if they affect transcripts only expressed under certain conditions. These transcripts are often lacking from...
10.
Lenassi E, Carvalho A, Thormann A, Abrahams L, Arno G, Fletcher T, et al.
J Med Genet
. 2023 Jan;
60(8):810-818.
PMID: 36669873
Background: Genomic variant prioritisation is one of the most significant bottlenecks to mainstream genomic testing in healthcare. Tools to improve precision while ensuring high recall are critical to successful mainstream...