Michal Szpak
Overview
Explore the profile of Michal Szpak including associated specialties, affiliations and a list of published articles.
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Articles
18
Citations
3028
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0
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Recent Articles
1.
Pedrazza L, Martinez-Martinez A, Sanchez-de-Diego C, Valer J, Pimenta-Lopes C, Sala-Gaston J, et al.
Cell Death Dis
. 2023 Jan;
14(1):17.
PMID: 36635269
Bone remodeling is a continuous process between bone-forming osteoblasts and bone-resorbing osteoclasts, with any imbalance resulting in metabolic bone disease, including osteopenia. The HERC1 gene encodes an E3 ubiquitin ligase...
2.
Martin F, Amode M, Aneja A, Austine-Orimoloye O, Azov A, Barnes I, et al.
Nucleic Acids Res
. 2022 Nov;
51(D1):D933-D941.
PMID: 36318249
Ensembl (https://www.ensembl.org) has produced high-quality genomic resources for vertebrates and model organisms for more than twenty years. During that time, our resources, services and tools have continually evolved in line...
3.
Wahyudi F, Aghakhanian F, Rahman S, Teo Y, Szpak M, Dhaliwal J, et al.
BMC Bioinformatics
. 2021 Dec;
22(1):604.
PMID: 34922440
Background: In population genomics, polymorphisms that are highly differentiated between geographically separated populations are often suggestive of Darwinian positive selection. Genomic scans have highlighted several such regions in African and...
4.
Hunt S, Moore B, Amode R, Armean I, Lemos D, Mushtaq A, et al.
Hum Mutat
. 2021 Nov;
43(8):986-997.
PMID: 34816521
The Ensembl Variant Effect Predictor (VEP) is a freely available, open-source tool for the annotation and filtering of genomic variants. It predicts variant molecular consequences using the Ensembl/GENCODE or RefSeq...
5.
Yates A, Allen J, Amode R, Azov A, Barba M, Becerra A, et al.
Nucleic Acids Res
. 2021 Nov;
50(D1):D996-D1003.
PMID: 34791415
Ensembl Genomes (https://www.ensemblgenomes.org) provides access to non-vertebrate genomes and analysis complementing vertebrate resources developed by the Ensembl project (https://www.ensembl.org). The two resources collectively present genome annotation through a consistent set...
6.
Cunningham F, Allen J, Allen J, Alvarez-Jarreta J, Amode M, Armean I, et al.
Nucleic Acids Res
. 2021 Nov;
50(D1):D988-D995.
PMID: 34791404
Ensembl (https://www.ensembl.org) is unique in its flexible infrastructure for access to genomic data and annotation. It has been designed to efficiently deliver annotation at scale for all eukaryotic life, and...
7.
Szpak M, Collins S, Li Y, Liu X, Ayub Q, Fischer M, et al.
Mol Biol Evol
. 2021 Aug;
38(12):5655-5663.
PMID: 34464968
A nonsense allele at rs1343879 in human MAGEE2 on chromosome X has previously been reported as a strong candidate for positive selection in East Asia. This premature stop codon causing...
8.
Martin F, Gall A, Szpak M, Flicek P
Front Genet
. 2021 May;
12:650228.
PMID: 33995484
Genome assembly is cheaper, more accurate and more automated than it has ever been. This is due to a combination of more cost-efficient chemistries, new sequencing technologies and better algorithms....
9.
Howe K, Achuthan P, Allen J, Allen J, Alvarez-Jarreta J, Amode M, et al.
Nucleic Acids Res
. 2020 Nov;
49(D1):D884-D891.
PMID: 33137190
The Ensembl project (https://www.ensembl.org) annotates genomes and disseminates genomic data for vertebrate species. We create detailed and comprehensive annotation of gene structures, regulatory elements and variants, and enable comparative genomics...
10.
Szpak M, Xue Y, Ayub Q, Tyler-Smith C
FEBS Lett
. 2019 May;
593(13):1431-1448.
PMID: 31116407
Classic selective sweeps occur when positive selection increases a variant's frequency from low to high in a population, and underlie some long-studied human characteristics such as variation in skin, hair...