Next generation sequencing technologies enabled high-density genotyping for large numbers of samples. Nowadays SNP calling pipelines produce up to millions of such markers, but which need to be filtered in various ways according to the type of analyses. One of the main challenges still lies in the management of an increasing volume of genotyping files that are difficult to handle for many applications. Here, we provide a practical guide for efficiently managing large genomic variation data using Gigwa, a user-friendly, scalable and versatile application that may be deployed either remotely on web servers or on a local machine.

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-1-0716-2067-0_21DOI Listing

Publication Analysis

Top Keywords

high-density genotyping
8
data gigwa
8
managing high-density
4
genotyping data
4
gigwa generation
4
generation sequencing
4
sequencing technologies
4
technologies enabled
4
enabled high-density
4
genotyping large
4

Similar Publications

Genomic selection is a widely used quantitative method of determining the genetic value of an individual from genomic information and phenotypic data. In this study, we used a large, multi-year training population of 3248 individuals from the University of Florida strawberry (Fragaria × ananassa Duchesne) breeding program. We coupled this training population with a test population of 1460 individuals derived from 20 biparental families.

View Article and Find Full Text PDF

Biomarkers.

Alzheimers Dement

December 2024

Innovation Center for Neurological Disorders, Xuanwu Hospital, Capital Medical University, Beijing, China;, Beijing, China.

Background: Metabolic syndrome (MetS) was associated with an increased incidence of mild cognitive impairment (MCI) and progression to dementia. However, little is known about why this occurs. This study was to examine the correlation between the MetS indicators and cerebrospinal fluid (CSF) pathological protein biomarkers to investigate this mechanism.

View Article and Find Full Text PDF

Biomarkers.

Alzheimers Dement

December 2024

Centre for Brain Research, Indian Institute of Science, Bangalore, Karnataka, India.

Background: Metabolic Syndrome (MetS) is a significant health concern, characterized by a combination of cardio- vascular risk factors, influenced by genetic factors including the apolipoprotein E (ApoE). This study examines the sex- specific association between ApoE genotypes and MetS in a rural Southern Indian population METHOD: This cross- sectional study included 3741 participants aged ≥ 45 years from the rural Srinivaspura Aging, Neuro Senescence and COGnition (SANSCOG) cohort in Karnataka, India. All participants were measured for blood pressure, anthropometric measurements, and fasting concentrations of glucose, triglycerides, cholesterol, high-density lipoprotein cholesterol, and low-density lipoprotein cholesterol.

View Article and Find Full Text PDF

Developing Topics.

Alzheimers Dement

December 2024

Stanford University, School of Medicine, Stanford, CA, USA.

Background: The X-chromosome remains largely unexplored in Alzheimer's disease (AD). To address this gap, we performed the first large-scale X chromosome-wide association study (XWAS) of AD.

Method: The study overview is shown in Figure 1A.

View Article and Find Full Text PDF

Genomic Selection and WssGWAS of Sheep Body Weight and Milk Yield: Imputing Low-Coverage Sequencing Data with Similar Genetic Background Panels.

J Dairy Sci

January 2025

College of Animal Science and Technology, Northwest A&F University, 22 nt, Xinong Road, Yangling, Shaanxi, China. Electronic address:

Low-coverage whole-genome sequencing (LcWGS), a cost-effective genotyping method, offers greater flexibility in variant detection than does single-nucleotide polymorphism (SNP) chips. However, to our knowledge, no studies have explored the application of LcWGS in sheep. This study aimed to evaluate the feasibility of implementing LcWGS and genotype imputation and assess their applicability in genomic studies of body weight and milk yield in sheep.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!