Searching journal content for articles similar to McGuire et al. 24 (5): 719.

Displaying results 1-10 of 2949

For checked items

view abstracts
download to citation manager

Select this article
Research: T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population
- Daniel Schmitz,
- Adam Ameur,
- and Åsa Johansson
Genome Res. November 2025 35: 2377-2388; Published in Advance September 16, 2025, doi:10.1101/gr.279320.124
.... 2022). The T2T-CHM13 has already seen use in the evaluation of novel tools (Formenti et al. 2022; Mc Cartney et al. 2022), characterization of SVs (Prodanov and Bansal 2022), and epigenetics (Gershman et al. 2022).During recent years, whole- sequencing (WGS) has been introduced as a clinical diagnostic...
OPEN ACCESS ARTICLE
Select this article
Method: The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects
- Maureen Pittman,
- Kihyun Lee,
- Franco Felix,
- Yu Huang,
- Adrienne Lam,
- Mauro W. Costa,
- Deepak Srivastava,
- and Katherine S. Pollard
Genome Res. February 2026 36: 330-347; Published in Advance December 12, 2025, doi:10.1101/gr.281141.125
.... Corresponding authors: deepak.srivastava@gladstone.ucsf.edu, kpollard@gladstone.ucsf.eduAbstractExome sequencing of thousands of families has revealed many risk genes for congenital heart defects (CHDs), yet most cases cannot be explained by a single causal mutation. Even within the same family, individuals...
OPEN ACCESS ARTICLE
Select this article
Research: Autism spectrum disorder risk genes have convergent effects on transcription and neuronal firing patterns in primary neurons
- Alekh Paranjapye,
- Rili Ahmad,
- Steven Su,
- Abraham J. Waldman,
- Jennifer E. Phillips-Cremins,
- Shuo Zhang,
- and Erica Korb
Genome Res. November 2025 35: 2433-2444; Published in Advance October 20, 2025, doi:10.1101/gr.280698.125
...Alekh Paranjapye1,2,4, Rili Ahmad1,2,4, Steven Su1, Abraham J. Waldman3, Jennifer E. Phillips-Cremins1,2,3, Shuo Zhang2 and Erica Korb1,2 1Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA; 2Epigenetics Institute, Perelman School...
Select this article
Method: Genetics-driven risk predictions leveraging the Mendelian randomization framework
- Daniel Sens,
- Liubov Shilova,
- Ludwig Gräf,
- Maria Grebenshchikova,
- Bjoern M. Eskofier,
- and Francesco Paolo Casale
Genome Res. September 2024 34: 1276-1285; Published in Advance September 27, 2024, doi:10.1101/gr.279252.124
...nonlinearities while being simple and clinically plausible. Such a shape function is commonly used in risk prediction as it captures the scenario where contributions from single risk factors remain minimal until a critical threshold and then escalate (Wainberg et al. 2019; Liang et al. 2020; Zhao et al. 2023...
OPEN ACCESS ARTICLE
Select this article
Research: Estrogen receptor 1 chromatin profiling in human breast tumors reveals high inter-patient heterogeneity with enrichment of risk SNPs and enhancer activity at most-conserved regions
- Stacey E.P. Joosten,
- Sebastian Gregoricchio,
- Suzan Stelloo,
- Elif Yapıcı,
- Chia-Chi Flora Huang,
- Kerim Yavuz,
- Maria Donaldson Collier,
- Tunç Morova,
- Umut Berkay Altintaş,
- Yongsoo Kim,
- Sander Canisius,
- Cathy B. Moelans,
- Paul J. van Diest,
- Gozde Korkmaz,
- Nathan A. Lack,
- Michiel Vermeulen,
- Sabine C. Linn,
- and Wilbert Zwart
Genome Res. April 2024 34: 539-555; Published in Advance May 6, 2024, doi:10.1101/gr.278680.123
...expression of SLC14A, which rs9952980 is predicted to affect, by homozygous or heterozygous genotype.Clinically, carriers of the alternative allele (T) have less risk (beta: −0.0549) of developing breast cancer than do homozygous carriers of the reference allele (C). rs9952980 was previously predicted...
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: Epstein–Barr virus nuclear antigen 2 extensively rewires the human chromatin landscape at autoimmune risk loci
- Ted Hong,
- Sreeja Parameswaran,
- Omer A. Donmez,
- Daniel Miller,
- Carmy Forney,
- Michael Lape,
- Mariana Saint Just Ribeiro,
- Jun Liang,
- Lee E. Edsall,
- Albert F. Magnusen,
- William Miller,
- Iouri Chepelev,
- John B. Harley,
- Bo Zhao,
- Leah C. Kottyan,
- and Matthew T. Weirauch
Genome Res. December 2021 31: 2185-2198; Published in Advance November 19, 2021, doi:10.1101/gr.264705.120
...sclerosis, lupus, and other disorders. Previously, we showed that the EBV nuclear antigen 2 (EBNA2) transactivating protein occupies up to half of the risk loci for a set of seven autoimmune disorders. To further examine the mechanistic roles played by EBNA2 at these loci on a -wide scale, we globally...
OPEN ACCESS ARTICLE
Select this article
Research: A hidden layer of structural variation in transposable elements reveals potential genetic modifiers in human disease-risk loci
- Elisabeth J. van Bree,
- Rita L.F.P. Guimarães,
- Mischa Lundberg,
- Elena R. Blujdea,
- Jimi L. Rosenkrantz,
- Fred T.G. White,
- Josse Poppinga,
- Paula Ferrer-Raventós,
- Anne-Fleur E. Schneider,
- Isabella Clayton,
- David Haussler,
- Marcel J.T. Reinders,
- Henne Holstege,
- Adam D. Ewing,
- Colette Moses,
- and Frank M.J. Jacobs
Genome Res. April 2022 32: 656-670; Published in Advance March 24, 2022, doi:10.1101/gr.275515.121
...'s disease–associated risk loci and in the BCKDK Parkinson's disease–associated risk locus and assessed multiple aspects of their gene-regulatory influence in a human neuronal context. Together, this study reveals a novel layer of genetic variation in transposable elements that may contribute...
OPEN ACCESS ARTICLE
Select this article
Methods: Prediction of individual genetic risk to disease from genome-wide association studies
- Naomi R. Wray,
- Michael E. Goddard,
- and Peter M. Visscher
Genome Res. October 2007 17: 1520-1528; Published in Advance September 4, 2007, doi:10.1101/gr.6665407
..., validation, and application populations are the same. The need for new methodology for prediction of genetic risk has been recognized ( Collins et al. 2003 ; Bell 2004 ; Khoury et al. 2006 ). Implementation of risk prediction in a clinical context has serious ethical and social implications ( Grosse...
Select this article
Research: Integrative functional genomics identifies an enhancer looping to the SOX9 gene disrupted by the 17q24.3 prostate cancer risk locus
- Xiaoyang Zhang,
- Richard Cowper-Sal·lari,
- Swneke D. Bailey,
- Jason H. Moore,
- and Mathieu Lupien
Genome Res. August 2012 22: 1437-1446; Published in Advance June 4, 2012, doi:10.1101/gr.135665.111
...Integrative functional genomics identifies an enhancer looping to the SOX9 gene disrupted by the 17q24.3 prostate cancer risk locus Xiaoyang Zhang 1 , 4 , Richard Cowper-Sal·lari 1 , 2 , 4 , Swneke D. Bailey 3 , Jason H. Moore 1 , 2...

For checked items

view abstracts
download to citation manager

Searching journal content for articles similar to McGuire et al. 24 (5): 719.

Search Results

Modify Results

This search

Preprint Server

Current Issue

In This Issue

Citation format:
Results / page:
Results order: