Strategies for excluding false Y-chromosomal SNP entries from human genome databases

Jessica Rothe; Marion Nagy

doi:10.1002/elps.201100685

Strategies for excluding false Y-chromosomal SNP entries from human genome databases

Electrophoresis. 2012 May;33(9-10):1488-91. doi: 10.1002/elps.201100685.

Authors

Jessica Rothe¹, Marion Nagy

Affiliation

¹ Department of Forensic Genetics, Institute of Legal Medicine and Forensic Sciences, Berlin, Germany. jessica.rothe@charite.de

PMID: 22648820
DOI: 10.1002/elps.201100685

Abstract

Current human genome databases for public single nucleotide polymorphisms (SNPs) still contain a substantial fraction of false entries. The main reasons for errors include sequencing or assembly errors, paralogous sequence-, and private variants. In the course of our studies on the Y chromosome, we established a set of internal laboratory guidelines for reliably identifying false SNP entries in databases.

MeSH terms

Base Sequence
Chromosomes, Human, Y*
Databases, Genetic / standards*
Genome, Human*
Humans
Molecular Sequence Data
Polymorphism, Single Nucleotide*
Sequence Alignment
Sequence Analysis, DNA / standards