Analysis of Human Genome Variants

This cluster focuses on the study of human genome variations and their implications for health. It includes methods for variant analysis and association studies in large populations.

genome variation
human genetics
variant analysis
health implications
genomic data

186,866 papers

Parent topic: Genomic and Proteomic Research

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Papers Over Time

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Top Papers

PLINK: A Tool Set For Whole-Genome Association And Population-Based Linkage Analyses

2007 · 27,850 citations

Standards And Guidelines For The Interpretation Of Sequence Variants: A Joint Consensus Recommendation Of The American College Of Medical Genetics And Genomics And The Association For Molecular Pathology

2015 · 23,454 citations

Initial Sequencing And Analysis Of The Human Genome

2001 · 20,469 citations

An Integrated Encyclopedia Of DNA Elements In The Human Genome

2012 · 15,958 citations

A Global Reference For Human Genetic Variation

2015 · 15,113 citations

Haploview: Analysis And Visualization Of LD And Haplotype Maps

2004 · 12,978 citations

The Sequence Of The Human Genome

2001 · 11,553 citations

A Method And Server For Predicting Damaging Missense Mutations

2010 · 11,421 citations

Analysis Of Molecular Variance Inferred From Metric Distances Among DNA Haplotypes: Application To Human Mitochondrial DNA Restriction Data.

1992 · 10,873 citations

A Framework For Variation Discovery And Genotyping Using Next-Generation DNA Sequencing Data

2011 · 9,881 citations

The Human Genome Browser At UCSC

2002 · 8,625 citations

Genome-wide Association Study Of 14,000 Cases Of Seven Common Diseases And 3,000 Shared Controls

2007 · 8,579 citations

Gene Dose Of Apolipoprotein E Type 4 Allele And The Risk Of Alzheimer's Disease In Late Onset Families

1993 · 8,572 citations

A Genetic Model For Colorectal Tumorigenesis

1990 · 8,474 citations

Mutation In The α-Synuclein Gene Identified In Families With Parkinson's Disease

1997 · 7,583 citations

The Mutational Constraint Spectrum Quantified From Variation In 141,456 Humans

2020 · 7,364 citations

Fast Model-Based Estimation Of Ancestry In Unrelated Individuals

2009 · 7,201 citations

A Map Of Human Genome Variation From Population-Scale Sequencing

2010 · 7,105 citations

An Integrated Map Of Genetic Variation From 1,092 Human Genomes

2012 · 7,078 citations

Finding The Missing Heritability Of Complex Diseases

2009 · 7,030 citations