Results 21 to 30 of about 277,505 (282)

Phospholipase C epsilon 1 (PLCE1) haplotypes are associated with increased risk of gastric cancer in Kashmir Valley

The Saudi Journal of Gastroenterology, 2014
Background/Aim: Phospholipase C epsilon 1 (PLCE1) plays a crucial role in carcinogenesis and progression of several types of cancers. A single nucleotide polymorphism (SNP, rs2274223) in PLCE1 has been identified as a novel susceptibility locus.
Manzoor A Malik, Priya Srivastava, Showkat A Zargar, Balraj Mittal   +3 more
doaj   +1 more source

A genome-wide combinatorial strategy dissects complex genetic architecture of seed coat colour in chickpea

Frontiers in Plant Science, 2015
The study identified 9045 high-quality SNPs employing both genome-wide GBS- and candidate gene-based SNP genotyping assays in 172, including 93 cultivated (desi and kabuli) and 79 wild chickpea accessions.
Deepak eBajaj, Shouvik eDas, Hari Deo eUpadhyaya, Rajeev eRanjan, Rajeev eRanjan, SAURABH eBADONI, Vinod eKumar, Shailesh eTripathi, CL Laxmipathi Gowda, Shivali eSharma, Sube eSingh, Akhilesh eTyagi, SWARUP KUMAR PARIDA   +12 more
doaj   +1 more source

CD4 intragenic SNPs associate with HIV-2 plasma viral load and CD4 count in a community-based study from Guinea-Bissau, West Africa. [PDF]

, 2010
OBJECTIVES: The human genetics of HIV-2 infection and disease progression is understudied. Therefore, we studied the effect of variation in 2 genes that encode products critical to HIV pathogenesis and disease progression: CD4 and CD209.
Aaby, Peter, Bisseye, Cyrille, Edwards, Todd L, Hennig, Branwen J, Hill, Adrian V, Jaye, Assan, Kaye, Steve, Novelli, Giuseppe, Schim van der Loeff, Maarten F, Scott, William K, Sirugo, Giorgio, Tacconelli, Alessandra, Velez-Edwards, Digna R, Whittle, Hilton C, Williams, Scott M   +14 more
core   +2 more sources

HandyCNV: Standardized Summary, Annotation, Comparison, and Visualization of Copy Number Variant, Copy Number Variation Region, and Runs of Homozygosity

Frontiers in Genetics, 2021
Detection of CNVs (copy number variants) and ROH (runs of homozygosity) from SNP (single nucleotide polymorphism) genotyping data is often required in genomic studies.
Jinghang Zhou, Jinghang Zhou, Liyuan Liu, Liyuan Liu, Thomas J. Lopdell, Dorian J. Garrick, Yuangang Shi   +6 more
doaj   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Family-Based Haplotype Estimation and Allele Dosage Correction for Polyploids Using Short Sequence Reads

Frontiers in Genetics, 2019
DNA sequence reads contain information about the genomic variants located on a single chromosome. By extracting and extending this information using the overlaps between the reads, the haplotypes of an individual can be obtained.
Ehsan Motazedi, Ehsan Motazedi, Chris Maliepaard, Richard Finkers, Richard Visser, Dick de Ridder   +5 more
doaj   +1 more source

Efficient Sequencing, Assembly, and Annotation of Human KIR Haplotypes

Frontiers in Immunology, 2020
The homology, recombination, variation, and repetitive elements in the natural killer-cell immunoglobulin-like receptor (KIR) region has made full haplotype DNA interpretation impossible in a high-throughput workflow.
David Roe, Jonathan Williams, Keyton Ivery, Jenny Brouckaert, Nick Downey, Chad Locklear, Rui Kuang, Rui Kuang, Martin Maiers   +8 more
doaj   +1 more source

phylogenetic study of the Mongolian Tree Pipit (Anthus trivialis, Linnaeus, 1758) population based on mitochondrial DNA (mtDNA) genes

Proceedings of the Mongolian Academy of Sciences
Our aim was to identify nucleotide polymorphisms, assess their distribution in haplotype diversity, and construct a phylogenetic tree by analyzing mtDNA markers of the Mongolian Tree Pipits(Anthus trivialis).
Ulziisaikhan Tumendemberel, Sod-erdene Byambadash, Gabor Sramko, Tserendulam Batsukh   +3 more
doaj   +1 more source

Haplotype Assembly: An Information Theoretic View

, 2014
This paper studies the haplotype assembly problem from an information theoretic perspective. A haplotype is a sequence of nucleotide bases on a chromosome, often conveniently represented by a binary string, that differ from the bases in the corresponding
Si, Hongbo, Vikalo, Haris, Vishwanath, Sriram   +2 more
core   +1 more source

The dynamics of alternative pathways to compensatory substitution [PDF]

, 2013
The role of epistatic interactions among loci is a central question in evolutionary biology and is increasingly relevant in the genomic age. While the population genetics of compensatory substitution have received considerable attention, most studies ...
Nasrallah, Chris A.
core   +2 more sources