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Karl Sirotkin

Researcher at National Institutes of Health

Publications -  11
Citations -  24985

Karl Sirotkin is an academic researcher from National Institutes of Health. The author has contributed to research in topics: dbSNP & GenBank. The author has an hindex of 9, co-authored 11 publications receiving 18765 citations.

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A global reference for human genetic variation.

Adam Auton, +517 more
- 01 Oct 2015 - 
TL;DR: The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and has reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-generation sequencing, deep exome sequencing, and dense microarray genotyping.
Journal ArticleDOI

dbSNP: the NCBI database of genetic variation

TL;DR: The dbSNP database is a general catalog of genome variation to address the large-scale sampling designs required by association studies, gene mapping and evolutionary biology, and is integrated with other sources of information at NCBI such as GenBank, PubMed, LocusLink and the Human Genome Project data.

A global reference for human genetic variation

Adam Auton, +479 more
TL;DR: The 1000 Genomes Project as mentioned in this paper provided a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and reported the completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole genome sequencing, deep exome sequencing and dense microarray genotyping.
Journal ArticleDOI

The NCBI dbGaP database of genotypes and phenotypes.

TL;DR: The dbGaP as discussed by the authors is a public repository for individual-level phenotype, exposure, genotype and sequence data and the associations between them, including documents, individual phenotypic variables, tables of trait data, sets of genotype data, computed phenotype-genotype associations, and groups of study subjects who have given similar consents for use of their data.
Journal ArticleDOI

dbSNP-database for single nucleotide polymorphisms and other classes of minor genetic variation.

TL;DR: The dbSNP database is designed to serve as a general catalog of molecular variation to supplement GenBank and can include a broad range of molecular polymorphisms: single base nucleotide substitutions, short deletion and insertion polymorphisms, microsatellite markers, and polymorphic insertion elements such as retrotransposons.