Results 121 to 130 of about 407,509 (363)

Boosting Haplotype Inference with Local Search

, 2008
. A very challenging problem in the genetics domain is to infer haplotypes from genotypes. This process is expected to identify genes affecting health, disease and response to drugs.
Lynce, Ines, Marques-Silva, Joao, Prestwich, Steve   +2 more
core   +2 more sources

Unveiling the Role of the Most Impactful Cardiovascular Risk Locus through Haplotype Editing [PDF]

, 2018
Valentina Lo Sardo, Pavel Chubukov, William C. Ferguson, Aditya Kumar, Evan L. Teng, Michael Duran, Lei Zhang, Gregory J. Cost, Adam J. Engler, Fyodor D. Urnov, Eric J. Topol, Ali Torkamani, Kristin K. Baldwin   +12 more
openalex   +1 more source

Haplotype-Based Genotyping in Polyploids

Frontiers in Plant Science, 2018
Accurate identification of polymorphisms from sequence data is crucial to unlocking the potential of high throughput sequencing for genomics. Single nucleotide polymorphisms (SNPs) are difficult to accurately identify in polyploid crops due to the ...
J. Clevenger, W. Korani, P. Ozias‐Akins, S. Jackson   +3 more
semanticscholar   +1 more source

Variants in the Upstream Region of the Insulin Receptor Substrate-1 Gene Is Associated with Major Depressive Disorder in the Han Chinese Population

Neuropsychiatric Disease and Treatment, 2020
Fan Wang,1,2 Shunying Yu,3 Rubai Zhou,1 Ruizhi Mao,1 Guoqing Zhao,1,4 Xiaoyun Guo,1 Qingqing Xu,3 Jun Chen,1 Chen Zhang,1 Yiru Fang1,5,6 1Division of Mood Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine ...
Wang F, Yu S, Zhou R, Mao R, Zhao G, Guo X, Xu Q, Chen J, Zhang C, Fang Y   +9 more
doaj  

Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity

eLife, 2016
Targeted sequencing of sixteen SLE risk loci among 1349 Caucasian cases and controls produced a comprehensive dataset of the variations causing susceptibility to systemic lupus erythematosus (SLE). Two independent disease association signals in the HLA-D
Prithvi Raj, Ekta Rai, Ran Song, Shaheen Khan, Benjamin E Wakeland, Kasthuribai Viswanathan, Carlos Arana, Chaoying Liang, Bo Zhang, Igor Dozmorov, Ferdicia Carr-Johnson, Mitja Mitrovic, Graham B Wiley, Jennifer A Kelly, Bernard R Lauwerys, Nancy J Olsen, Chris Cotsapas, Christine K Garcia, Carol A Wise, John B Harley, Swapan K Nath, Judith A James, Chaim O Jacob, Betty P Tsao, Chandrashekhar Pasare, David R Karp, Quan Zhen Li, Patrick M Gaffney, Edward K Wakeland   +28 more
doaj   +1 more source

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers. [PDF]

, 2016
PurposeWe determined the phenotypic variation, disease progression, and potential modifiers of autosomal dominant retinal dystrophies caused by a splice site founder mutation, c.828+3A>T, in the PRPH2 gene.MethodsA total of 62 individuals (19 families)
Birch, David G, Bowne, Sara J, Conneely, Karen N, Daiger, Stephen P, Hughbanks-Wheaton, Dianna K, Shankar, Suma P, Stone, Edwin M, Sullivan, Lori S   +7 more
core  

Improving sequence-based genotype calls with linkage disequilibrium and pedigree information

, 2012
Whole and targeted sequencing of human genomes is a promising, increasingly feasible tool for discovering genetic contributions to risk of complex diseases.
Whittemore, Alice S., Zhou, Baiyu
core   +1 more source

Haplotype estimation for biobank scale datasets

Nature Genetics, 2016
The UK Biobank (UKB) has recently released genotypes on 152,328 individuals together with extensive phenotypic and lifestyle information. We present a new phasing method, SHAPEIT3, that can handle such biobank-scale data sets and results in switch error ...
Jared O'Connell, Kevin Sharp, N. Shrine, L. Wain, I. Hall, M. Tobin, J. Zagury, Olivier Delaneau, J. Marchini   +8 more
semanticscholar   +1 more source

The causal relationship between systemic lupus erythematosus and juvenile myoclonic epilepsy: A Mendelian randomization study and mediation analysis

Ibrain, Volume 11, Issue 1, Page 98-105, Spring 2025.
Mendelian randomization (MR) studies were conducted using the inverse‐variance weighted (IVW) method, MR‐Egger and weighted median on juvenile myoclonic epilepsy (JME), and systemic lupus erythematosus (SLE) data from the Integrative Epidemiology Unit (IEU) Open genome‐wide association study (GWAS) database and the International League Against Epilepsy
Sirui Chen, Ningning Zhang, Ruirui Zhang, Lan Zhang, Dadong Luo, Junqiang Li, Yaqing Liu, Yunan Wang, Xinyue Duan, Xin Tian, Tiancheng Wang   +10 more
wiley   +1 more source

Epigenetic patterns within the haplotype phased fig (Ficus carica L.) genome [PDF]

, 2019
Gabriele Usai, Flavia Mascagni, Tommaso Giordani, Alberto Vangelisti, Emanuele Bosi, Andrea Zuccolo, Marilena Ceccarelli, Robert C. King, Keywan Hassani‐Pak, Liceth Solorzano Zambrano, Andrea Cavallini, Lucia Natali   +11 more
openalex   +1 more source