title: Increasing the reference populations for the 55 AISNP panel: the need and benefits.
abstract: Ancestry inference for an individual can only be as good as the reference populations with allele frequency data on the SNPs being used. If the most relevant ancestral population(s) does not have data available for the SNPs studied, then analyses based on DNA evidence may indicate a quite distantly related population, albeit one among the more closely related of the existing reference populations. We have added reference population allele frequencies for 14 additional population samples (with >1100 individuals studied) to the 125 population samples previously published for the Kidd Lab 55 AISNP panel. Allele frequencies are now publicly available for all 55 SNPs in ALFRED and FROG-kb for a total of 139 population samples. This Kidd Lab panel of 55 ancestry informative SNPs has been incorporated in commercial kits by both ThermoFisher Scientific and Illumina for massively parallel sequencing. Researchers employing those kits will find the enhanced set of reference populations useful.
authors.affiliation: Department of Genetics, Yale University School of Medicine, P.O. Box 208005, 333 Cedar Street, New Haven, CT, 06520-8005, USA. Andrew.Pakstis@yale.edu.
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Pakstis
authors.affiliation: Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Disease of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, 712082, China.|Key Laboratory of High Altitude Environment and Genes Related to Disease of Tibet Ministry of Education, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, 712082, China.
authors.forename: Longli
authors.initials: L
authors.lastname: Kang
authors.affiliation: Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Disease of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, 712082, China.|Key Laboratory of High Altitude Environment and Genes Related to Disease of Tibet Ministry of Education, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, 712082, China.
authors.forename: Lijun
authors.initials: L
authors.lastname: Liu
authors.affiliation: Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Disease of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, 712082, China.|Key Laboratory of High Altitude Environment and Genes Related to Disease of Tibet Ministry of Education, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, 712082, China.
authors.forename: Zhiying
authors.initials: Z
authors.lastname: Zhang
authors.affiliation: Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Disease of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, 712082, China.|Key Laboratory of High Altitude Environment and Genes Related to Disease of Tibet Ministry of Education, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, 712082, China.
authors.forename: Tianbo
authors.initials: T
authors.lastname: Jin
authors.affiliation: Department of Psychology, University of Houston, Houston, TX, 77204, USA.|Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
authors.forename: Elena L
authors.initials: EL
authors.lastname: Grigorenko
authors.affiliation: Institute of Molecular Medicine, University of North Texas Health Science Center, 3500 Camp Bowie Blvd, Fort Worth, TX, 76107, USA.
authors.forename: Frank R
authors.initials: FR
authors.lastname: Wendt
authors.affiliation: Center for Human Identification, University of North Texas Health Science Center, 3500 Camp Bowie Blvd, Fort Worth, TX, 76107, USA.|Center of Excellence in Genomic Medicine Research, King Abdelaziz University, Jeddah, Saudi Arabia.
authors.forename: Bruce
authors.initials: B
authors.lastname: Budowle
authors.affiliation: School of Forensic & Applied Sciences, University of Central Lancashire, Preston, UK.
authors.forename: Sibte
authors.initials: S
authors.lastname: Hadi
authors.affiliation: School of Forensic & Applied Sciences, University of Central Lancashire, Preston, UK.
authors.forename: Mariam Salam
authors.initials: MS
authors.lastname: Al Qahtani
authors.affiliation: Section of Forensic Genetics, Department of Forensic Medicine, University of Copenhagen, DK-2100, Copenhagen, Denmark.
authors.forename: Niels
authors.initials: N
authors.lastname: Morling
authors.affiliation: Section of Forensic Genetics, Department of Forensic Medicine, University of Copenhagen, DK-2100, Copenhagen, Denmark.
authors.forename: Helle Smidt
authors.initials: HS
authors.lastname: Mogensen
authors.affiliation: Section of Forensic Genetics, Department of Forensic Medicine, University of Copenhagen, DK-2100, Copenhagen, Denmark.
authors.forename: Goncalo E
authors.initials: GE
authors.lastname: Themudo
authors.affiliation: Department of Genetics, Yale University School of Medicine, P.O. Box 208005, 333 Cedar Street, New Haven, CT, 06520-8005, USA.
authors.forename: Usha
authors.initials: U
authors.lastname: Soundararajan
authors.affiliation: Department of Genetics, Yale University School of Medicine, P.O. Box 208005, 333 Cedar Street, New Haven, CT, 06520-8005, USA.
authors.forename: Haseena
authors.initials: H
authors.lastname: Rajeevan
authors.affiliation: Department of Genetics, Yale University School of Medicine, P.O. Box 208005, 333 Cedar Street, New Haven, CT, 06520-8005, USA.
authors.forename: Judith R
authors.initials: JR
authors.lastname: Kidd
authors.affiliation: Department of Genetics, Yale University School of Medicine, P.O. Box 208005, 333 Cedar Street, New Haven, CT, 06520-8005, USA.
authors.forename: Kenneth K
authors.initials: KK
authors.lastname: Kidd
mesh_terms: D030541:Databases, Genetic; D005006:Ethnicity / Q000235:genetics*; D005787:Gene Frequency; D005828:Genetics, Population; D005838:Genotype; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D044469:Racial Groups / Q000235:genetics*
keywords: Alfred; Ancestry; FROG-kb; Reference database; SNP