Searching journal content for articles similar to Surakka et al. 20 (10): 1344.

Displaying results 1-10 of 5680

For checked items

view abstracts
download to citation manager

Select this article
Method: Proxy panels enable privacy-aware outsourcing of genotype imputation
- Degui Zhi,
- Xiaoqian Jiang,
- and Arif Harmanci
Genome Res. February 2025 35: 326-339; Published in Advance January 10, 2025, doi:10.1101/gr.278934.124
...such as The HapMap Consortium (International HapMap Consortium 2005; Locke et al. 2006), The 1000 Genomes Project (The 1000 Genomes Project Consortium 2015), and the population-scale projects such as UK Biobank, Genomics England, Trans-omics for Precision Medicine (TOPMed) (Kowalski et al. 2019), and All of Us...
OPEN ACCESS ARTICLE
Select this article
Research: Genotype imputation from low-coverage data for medical and population genetic analyses
- Simone Andrea Biagini,
- Sara Becelaere,
- Mio Aerden,
- Tatjana Jatsenko,
- Laurens Hannes,
- Philip Van Damme,
- Jeroen Breckpot,
- Koenraad Devriendt,
- Bernard Thienpont,
- Joris Robert Vermeesch,
- Isabelle Cleynen,
- and Toomas Kivisild
Genome Res. September 2025 35: 1929-1941; Published in Advance July 22, 2025, doi:10.1101/gr.280175.124
...data set there are less SNPs than in the GDI data set, these SNPs have been chosen to capture most of the common variability in the human (The International HapMap Consortium 2005). Common SNPs, which are predominantly the signals detected by GWAS, are consequently the ones used for PGS. Together...
OPEN ACCESS ARTICLE
Select this article
Review: Leveraging the power of long reads for targeted sequencing
- Shruti V. Iyer,
- Sara Goodwin,
- and William Richard McCombie
Genome Res. November 2024 34: 1701-1718; doi:10.1101/gr.279168.124
...for the discovery of low-frequency variants, such as somatic mutations. Newer long-read sequencing strategies also deliver highly accurate data, improving the detection of pathogenic single-nucleotide polymorphisms (SNPs) and copy number variation (CNV). Until recently, the lack of long-read compatible target...
OPEN ACCESS ARTICLE
Select this article
Method: Joint imputation and deconvolution of gene expression across spatial transcriptomics platforms
- Hongyu Zheng,
- Hirak Sarkar,
- and Benjamin J. Raphael
Genome Res. December 2025 35: 2734-2743; Published in Advance November 17, 2025, doi:10.1101/gr.280555.125
...version: In this window In a new window Figure 1. Overview of Spatial Integration for Imputation and Deconvolution (SIID). Given Xenium and Visium expression matrices AX and AV, respectively, with corresponding gene panels GX and GV (with GX ⊂ GV), and a Xenium to Visium spatial mapping Γ, SIID finds...
OPEN ACCESS ARTICLE
Select this article
Method: Scalable summary-statistics-based heritability estimation method with individual genotype level accuracy
- Moonseong Jeong,
- Ali Pazokitoroudi,
- Zhengtong Liu,
- and Sriram Sankararaman
Genome Res. September 2024 34: 1286-1293; Published in Advance July 22, 2024, doi:10.1101/gr.279207.124
...-Elston regression (SUM-RHE), a method that can estimate the SNP heritability of complex phenotypes with accuracies comparable to approaches that require individual genotypes, while exclusively relying on summary statistics. SUM-RHE employs Genome-Wide Association Study (GWAS) summary statistics and statistics...
OPEN ACCESS ARTICLE
Select this article
Method: Characterization of meiotic recombination intermediates through gene knockouts in founder hybrid mice
- Benjamin Davies,
- Gang Zhang,
- Daniela Moralli,
- Samy Alghadban,
- Daniel Biggs,
- Chris Preece,
- Peter Donnelly,
- and Anjali Gupta Hinch
Genome Res. November 2023 33: 2018-2027; Published in Advance November 17, 2023, doi:10.1101/gr.278024.123
...count (C).View this table: In this window In a new window Table 1. Fertility parameters for putative Dmc1 knockout hybrid foundersGiven the low level of mutagenesis at the 3′ CRISPR site using sgRNA-D and the mosaic expression of Dmc1 observed in one of the founders, we wanted to improve the reliability...
OPEN ACCESS ARTICLE
Select this article
Research: Enhanced detection of RNA modifications and read mapping with high-accuracy nanopore RNA basecalling models
- Gregor Diensthuber,
- Leszek P. Pryszcz,
- Laia Llovera,
- Morghan C. Lucas,
- Anna Delgado-Tejedor,
- Sonia Cruciani,
- Jean-Yves Roignant,
- Oguzhan Begik,
- and Eva Maria Novoa
Genome Res. November 2024 34: 1865-1877; Published in Advance September 13, 2024, doi:10.1101/gr.278849.123
...at high stoichiometries. Here, we demonstrate that the use of alternative RNA basecalling models, trained with fully unmodified sequences, increases the “error” signal of m6A, leading to enhanced detection and improved sensitivity even at low stoichiometries. Moreover, we find that high-accuracy...
Select this article
Resource: EPIGEN-Brazil Initiative resources: a Latin American imputation panel and the Scientific Workflow
- Wagner C.S. Magalhães,
- Nathalia M. Araujo,
- Thiago P. Leal,
- Gilderlanio S. Araujo,
- Paula J.S. Viriato,
- Fernanda S. Kehdy,
- Gustavo N. Costa,
- Mauricio L. Barreto,
- Bernardo L. Horta,
- Maria Fernanda Lima-Costa,
- Alexandre C. Pereira,
- Eduardo Tarazona-Santos,
- Maíra R. Rodrigues,
- and The Brazilian EPIGEN Consortium
Genome Res. July 2018 28: 1090-1095; Published in Advance June 14, 2018, doi:10.1101/gr.225458.117
.... In the context of GWAS and fine-mapping studies in Brazilian and other Latin American populations with a predominant mix of European and African ancestries, we tested whether using the EPIGEN-5M+1KGP imputation panel improves imputation in respect to the 1KGP imputation panel alone.The EPIGEN-5M+1KGP and the 1...
Select this article
Research: Low-pass sequencing increases the power of GWAS and decreases measurement error of polygenic risk scores compared to genotyping arrays
- Jeremiah H. Li,
- Chase A. Mazur,
- Tomaz Berisa,
- and Joseph K. Pickrell
Genome Res. April 2021 31: 529-537; Published in Advance February 3, 2021, doi:10.1101/gr.266486.120
...-one-out design. We evaluated overall imputation accuracy from these different assays as well as overall power for GWAS from imputed data and computed polygenic risk scores for coronary artery disease and breast cancer using previously derived weights. We conclude that low-pass sequencing plus imputation...
Select this article
Research: Divergence patterns of genic copy number variation in natural populations of the house mouse (Mus musculus domesticus) reveal three conserved genes with major population-specific expansions
- Željka Pezer,
- Bettina Harr,
- Meike Teschke,
- Hiba Babiker,
- and Diethard Tautz
Genome Res. August 2015 25: 1114-1124; Published in Advance July 6, 2015, doi:10.1101/gr.187187.114
.... In total, 1863 transcription units appear to be completely encompassed within CNVs in at least one individual when compared to the reference assembly. Further, 179 of these CNVs show population-specific copy number differences, and 325 are subject to complete deletion in multiple individuals. Among...
OPEN ACCESS ARTICLE

For checked items

view abstracts
download to citation manager

Searching journal content for articles similar to Surakka et al. 20 (10): 1344.

Search Results

Modify Results

This search

Preprint Server

Current Issue

In This Issue

Citation format:
Results / page:
Results order: