1000 Genomes Project - Genetic Mutations

Relevant Publications

Resolving intra-repeat variation in medically relevant VNTRs from short-read sequencing data using the cardiovascular risk gene LPA as a model.

Issue Release: 2024

A Nanopore Sequencing-based Pharmacogenomic Panel to Personalize Tuberculosis Drug Dosing.

Issue Release: 2024

Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.

Issue Release: 2024

Genomic landscape and functional characterization of structural variations in schizophrenia and bipolar disorder.

Issue Release: 2024

A harmonized public resource of deeply sequenced diverse human genomes.

Issue Release: 2024

Comparison of Methods for Building Polygenic Scores for Diverse Populations.

Issue Release: 2024

The repertoire of G-protein-coupled receptor variations in the Japanese population 54KJPN.

Issue Release: 2024

ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease.

Issue Release: 2024

VCAT: an integrated variant function annotation tools.

Issue Release: 2024

A Protocol to Extract a Specific Genomic Region from a Public Whole-Genome Database and Modify Analytical Bin Length for Population Genetic Studies.

Issue Release: 2024

Local Ancestry Inference Based on Population-Specific Single-Nucleotide Polymorphisms-A Study of Admixed Populations in the 1000 Genomes Project.

Issue Release: 2024

A comparison of software for analysis of rare and common short tandem repeat (STR) variation using human genome sequences from clinical and population-based samples.

Issue Release: 2024

Simplified detection of genetic background admixture using artificial intelligence.

Issue Release: 2024

Development of a novel five dye insertion/deletion (INDEL) panel for ancestry determination.

Issue Release: 2024

The therapeutic landscape for COVID-19 and post-COVID-19 medications from genetic profiling of the Vietnamese population and a predictive model of drug-drug interaction for comorbid COVID-19 patients.

Issue Release: 2024

Genomic Variants and Worldwide Epidemiology of Breast Cancer: A Genome-Wide Association Studies Correlation Analysis.

Issue Release: 2024

High Frequencies of Genetic Variants in Patients with Atypical Femoral Fractures.

Issue Release: 2024

MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric.

Issue Release: 2024

Critically-ill COVID-19 susceptibility gene CCR3 shows natural selection in sub-Saharan Africans.

Issue Release: 2024

Alternative polyadenylation quantitative trait loci contribute to acute myeloid leukemia risk genes regulation.

Issue Release: 2024

What Makes a Mutation Harmful?

What are Genetic Duplications?

How Common are BRCA1 and BRCA2 Mutations?

What Are the Common Types of Errors?

How Do Mutations Cause Diseases?

What is Pharmacogenomics?

How Does Phylogenetic Analysis Relate to Genetic Mutations?

What Are the Consequences of Chemical-Induced Mutations?

What Future Research is Needed?

What is Meiosis?

Partnered Content Networks

Relevant Topics