Searching journal content for articles similar to Jorde 10 (10): 1435.

Displaying results 1-10 of 278

For checked items

view abstracts
download to citation manager

Select this article
Research: A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease
- Sumantra Chatterjee,
- Kameko M. Karasaki,
- Lauren E. Fries,
- Ashish Kapoor,
- and Aravinda Chakravarti
Genome Res. December 2021 31: 2199-2208; Published in Advance November 15, 2021, doi:10.1101/gr.275667.121
...single-nucleotide polymorphisms (SNPs) within six linkage disequilibrium (LD) blocks at the RET locus that are associated with Hirschsprung disease (HSCR)Haplotype-specific effect of causal RET polymorphismsThe identification of 10 CRE-associated risk variants (rs788263, rs788261, rs788260, rs2506030, rs...
Select this article
Methods: Genome-wide comparisons of variation in linkage disequilibrium
- Yik Y. Teo,
- Andrew E. Fry,
- Kanishka Bhattacharya,
- Kerrin S. Small,
- Dominic P. Kwiatkowski,
- and Taane G. Clark
Genome Res. October 2009 19: 1849-1860; Published in Advance June 18, 2009, doi:10.1101/gr.092189.109
..., United Kingdom Current -wide surveys of common diseases and complex traits fundamentally aim to detect indirect associations where the single nucleotide polymorphisms (SNPs) carrying the association signals are not biologically active but are in linkage disequilibrium (LD) with some unknown functional...
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
...-nucleotide polymorphisms (SNPs) associated with specific traits and diseases (MacArthur et al. 2017). In most cases, GWAS do not identify the genetic variation that drives the trait but use SNPs as markers to highlight trait-associated loci through linkage disequilibrium (LD) (Edwards et al. 2013). This calls...
OPEN ACCESS ARTICLE
Select this article
Methods: Recent human effective population size estimated from linkage disequilibrium
- Albert Tenesa,
- Pau Navarro,
- Ben J. Hayes,
- David L. Duffy,
- Geraldine M. Clarke,
- Mike E. Goddard,
- and Peter M. Visscher
Genome Res. April 2007 17: 520-526; Published in Advance March 9, 2007, doi:10.1101/gr.6023607
..., D.E. , Lander, E.S. ( 2001 ) On the allelic spectrum of human disease . Trends Genet. 17 : 502 – 510 . Reich, D.E. , Cargill, M. , Bolk, S. , Ireland, J. , Sabeti, P.C. , Richter, D.J. , Lavery, T. , Kouyoumjian, R. , Farhadian, S.F. , Ward, R. , et al. ( 2001 ) Linkage disequilibrium in the human...
Select this article
Method: Automated interpretable artificial intelligence genomic prediction with AlGP
- Lei Wei,
- Ziqin Jiang,
- Baoliang Fan,
- Yidan Yan,
- Zhenqiang Xu,
- Xiaoxiang Hu,
- and Yuzhe Wang
Genome Res. March 5, 2026 ; Published in Advance March 5, 2026, doi:10.1101/gr.281006.125
.... Biologically, the prediction accuracy of GS is linked to factors such as linkage disequilibrium (LD), heritability of traits (Zhang et al. 2019), sample size (Daetwyler et al. 2010), marker density (Moser et al. 2010), dimensionality reduction techniques, and genetic correlations between training...
Select this article
LETTER: Extended Intermarker Linkage Disequilibrium in the Afrikaners
- Diana Hall,
- Ellen M. Wijsman,
- J. Louw Roos,
- Joseph A. Gogos,
- and Maria Karayiorgou
Genome Res. June 1, 2002 12: 956-961; doi:10.1101/gr.136202
...and feasibility. Am. J. Hum. Genet. 63 : 1871 – 1885 . ↵ Eaves I.A. , Merriman T.R. , Barber R.A. , Nutland S. , Tuomilehto-Wolf E. , Tuomilehto J. , Cucca F. , Todd J.A. ( 2000 ) The genetically isolated populations of Finland and Sardinia may not be a panacea for linkage disequilibrium mapping of common disease...
Select this article
LETTER: Sequence features in regions of weak and strong linkage disequilibrium
- Albert V. Smith,
- Daryl J. Thomas,
- Heather M. Munro,
- and Gonçalo R. Abecasis
Genome Res. November 2005 15: 1519-1534; doi:10.1101/gr.4421405
...chromosomes. These observations are compatible with current recombination rate maps of the ( Yu et al. 2001 ; Kong et al. 2002 ). Large genomic duplications are associated with higher linkage disequilibrium. Since recombination events between duplicated regions are associated with human disease ( Lupski 1998...
Select this article
Resource: A platform for curated products from novel open reading frames prompts reinterpretation of disease variants
- Matthew D.C. Neville,
- Robin Kohze,
- Chaitanya Erady,
- Narendra Meena,
- Matthew Hayden,
- David N. Cooper,
- Matthew Mort,
- and Sudhakaran Prabakaran
Genome Res. February 2021 31: 327-336; Published in Advance January 19, 2021, doi:10.1101/gr.263202.120
..., Finucane HK, Furlotte NA, Loh P-R, Palamara PF, Liu X, Schoech A, Bulik-Sullivan B, Neale BM, Gusev A, et al. 2017. Linkage disequilibrium–dependent architecture of human complex traits shows action of negative selection. Nat Genet 49: 1421–1427. doi:10.1038/ng.3954...
Select this article
LETTER: Haplotype and Linkage Disequilibrium Architecture for Human Cancer-Associated Genes
- Penelope E. Bonnen,
- Peggy J. Wang,
- Marek Kimmel,
- Ranajit Chakraborty,
- and David L. Nelson
Genome Res. December 1, 2002 12: 1846-1853; Published in Advance November 12, 2002, doi:10.1101/gr.483802
..., there is persistent interest in exploiting these markers for linkage disequilibrium (LD)-based searches for disease-susceptibility alleles. Characterization of the structure of LD throughout the is a necessary companion to the successful pursuit of such studies. While the ultimate goal of having a -wide map of LD has...
Select this article
Method: Estimation of allele-specific fitness effects across human protein-coding sequences and implications for disease
- Yi-Fei Huang and
- Adam Siepel
Genome Res. August 2019 29: 1310-1321; Published in Advance June 27, 2019, doi:10.1101/gr.245522.118
...for the study of both human evolution and disease.Innovations in DNA sequencing and genotyping have enabled the discovery of millions of genetic variants in human populations, with new variants continuing to be discovered at a rapid pace (The 1000 Genomes Project Consortium 2015; The UK10K Consortium 2015; Lek...

For checked items

view abstracts
download to citation manager

Searching journal content for articles similar to Jorde 10 (10): 1435.

Search Results

Modify Results

This search

Preprint Server

Current Issue

In This Issue

Citation format:
Results / page:
Results order: