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NOTE: Corrections/Additions made to this page are shown at the bottom of the main Haplogroup R page.
Frequently Mutating SNPs are SNPs that appear many times in many places either in one or more haplogroups. They are inconsistent and not useful for genealogical purposes.
Adams et al,
The Case of the Unreliable SNP: Recurrent Back-mutation of Y-chromosomal Marker P25 Through
Gene Conversion. (abstract) Forensic Science International 159:14-20, 2006.
Adams et al, The Genetic Legacy of Religious Diversity and Intolerance: Paternal Lineages of Christians, Jews, and Muslims in the Iberian Peninsula, American Journal of Human Genetics, 83(6): 725-36, 2008.
Alonso et al, The Place of the Basques in the European Y-chromosome Diversity Landscape. (available by subscription) European Journal of Human Genetics, 13:1293-1302, 2005.
Balanovsky et al, Parallel Evolution of Genes and Languages in the Caucasus Region. Molecular Biology and Evolution, 13 May 2011.
Balaresque et al, A Predominantly Neolithic Origin for European Paternal Lineages. PLoS biology. 8(1):e1000285 2010.
Behar et al, Contrasting Patterns of Y Chromosome Variation in Ashkenazi Jewish and Host Non-Jewish European Populations. (pdf) Human Genetics 114:354-365, 2004.
Behar et al, Genome-Wide Structure of the Jewish People. Nature, 446:238-42, 2010.
Bosch et al, Paternal and Maternal Lineages in the Balkans Show a Homogeneous Landscape over Linguistis Barriers except for the Isolated Aromuns. Annals of Human Genetics, 70:459-87, (2006).
Capelli et al, Population Structure in the Mediterranean Basin: A Y Chromosome Perspective. (pdf) Annals of Human Genetics, 2005.
Cinnioglu et al, Excavating Y-chromosome Haplotype Strata in Anatolia. (pdf) Human Genetics, 114:127-148, 2004.
Cruciani et al, A Back Migration from Asia to Sub-Saharan Africa Is Supported by High-Resolution Analysis of Human Y-Chromosome Haplotypes. American Journal of Human Genetics, 70:1197-1214, 2002.
Cruciani et al, Human Y Chromosome Haplogroup R-V88: A Paternal Genetic Record of Early Mid Holocene Trans-Saharan Connections and the Spread of Chadic Languages. (abstract) (Epub ahead of print) European Journal of Human Genetics, January 6, 2010a.
Cruciani et al, Strong Intra- and Inter-continental Differentiation Revealed by Y chromosome SNPs M269, U106 and U152. Forensic Science International. Genetics,7-10, 2010b.
Deng et al, Evolution and Migration History of the Chinese Population Inferred from the Chinese Y-chromosome Evidence. (pdf) Journal of Human Genetics, 49:339-348, 2004.
Dulik et al, Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a Recent Common Ancestry between Native Americans and Indigenous Altaians. (pdf) The American Journal of Human Genetics, doi: 10.1016/ajhg.2011.12.014, 2012.
Flores et al, Reduced Genetic Structure of the Iberian Peninsula Revealed by Y-chromosome Analysis: Implications for Population Demography. (pdf) European Journal of Human Genetics, 12:855-863, 2004.
Francalacci et al, Low-Pass DNA Sequencing of 1200 Sardinians Reconstructs European Y-Chromosome Phylogeny. Science: Vol. 341 no. 6145, pp. 565-569, DOI: 10.1126/science.1237947, 2 August 2013.
Hallast et al, The Y-chromosome Tree Bursts into Leaf: 13,000 High-confidence SNPs Covering the Majority of Known Clades, Molecular Biology and Evolution, doi: 10.1093/molbev/msu327, 2014.
Herrera et al, Neolithic Patrilineal Signals Indicate that the Armenian Plateau was Repopulated by Agriculturalists. European Journal of Human Genetics, 10.1038/ejhg.2011.192, 2011.
Hinds et al, Whole-genome Patterns of Common DNA Variation in Three Human Populations. Science, 307:1072-1079, 2005.
Karafet et al, New Binary Polymorphisms Reshape and Increase Resolution of the Human Y-Chromosomal Haplogroup Tree. Abstract. Genome Research, published online April 2, 2008. Supplementary Material.
Karafet et al, Paternal Population History of East Asia: Sources, Patterns, and Microevolutionary Processes. (pdf) American Journal of Human Genetics, 69:615-628, 2001.
Karlsson et al, Y-chromosome Diversity in Sweden - A Long-time Perspective. (pdf) European Journal of Human Genetics, 14:963-970, 2006.
Karmin et al, A Recent Bottleneck of Y chromosome Diversity Coincides with a Global Change in Culture. Genome Research, doi: 10.1101/gr.186684.114, published online March 13, 2015.
Kayser et al. Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human Populations from West New Guinea. American Journal of Human Genetics, 72:281-302, 2003.
Kivisild et al, The Genetic Heritage of the Earliest Settlers Persists in Both Indian Tribal and Caste Populations. (pdf) American Journal of Human Genetics, 72:313-332, 2003.
Malhi et al, Distribution of Y Chromosomes among Native North Americans: A Study of Athapaskan Population History American Journal of Physical Anthropology, 137:412-24, 2008.
McEvoy et al, Y-chromosomes and the Extent of Patrilineal Ancestry in Irish Surnames (abstract) Human Genetics 2006 Jan 12;:1-8 (Epub ahead of print).
Mohyuddin et al, Detection of Novel Y SNPs Provides Further Insights into Y Chromosomal Variation in Pakistan. Journal of Human Genetics, 2006.
Moore et al, A Y-chromosome Signature of Hegemony in Gaelic Ireland. American Journal of Human Genetics, 78(2):334-338, 2006.
Myres et al, A Major Y-chromosome Haplogroup R1b Holocene Era Founder Effect in Central and Western Europe. European Journal of Human Genetics: EJHG. (July):1-7, 2010.
Myres et al, (2007), Y-chromosome Short Tandem Repeat DYS458.2 Non-concensus Alleles Occur Independently in Both Binary Haplogroups J1-M267 and R1b3-M405. Croatian Medical Journal, 48, 2007.
Nasidze et al, MtDNA and Y-chromosome Variation in Kurdish Groups. (abstract) Annals of Human Genetics, 69:401-412, 2005.
Regueiro et al, Iran: Tricontinental Nexus for Y-Chromosome Driven Migration. (abstract) Human Heredity, Vol. 61, No 3, 132-143, 2006.
Repping et al, High Mutation Rates Have Driven Extensive Structural Polymorphism among Human Y Chromosomes. (pdf) National Genetics, 38: 463-467, 2006.
Rocca et al, Discovery of Western European R1b1a2 Y Chromosome Variants in 1000 Genomes Project Data: An Online Community Approach. (pdf) PLoS ONE 7(7): e41634. doi:10.1371/journal.pone.0041634, 2012.
Rootsi et al, Phylogenetic Applications of Whole Y-chromosome Sequences and the Near Eastern Origin of Ashkenazi Levites. Nature Communications 4, Article number: 2928, doi:10.1038/ncomms3928, 2013.
Rozen et al, Remarkably Little Variation in Proteins Encoded by the Y Chromosome's Single-Copy Genes, Implying Effective Purifying Selection. American Journal of Human Genetics. 2009 December 11; 85(6): 923-928.
Semino et al, The Genetic Legacy of Paleolithic Homo Sapiens Sapiens in Extant Europeans. (pdf) Science, V290:1155-1159, 2000.
Semino et al, Ethiopians and Khoisan Share the Deepest Clades of the Human Y-Chromosome Phylogeny. (pdf) American Journal of Human Genetics, 70:265-268, 2002.
Sengupta et al, Polarity and Temporality of High Resolution Y-chromosome Distributions in India Identify Both Indigenous and Exogenous Expansions and Reveal Minor Genetic Influence of Central Asian Pastoralists. (available by subscription) American Journal of Human Genetics, 78:202-221, 2006.
Sharma et al, The Indian Origin of Paternal Haplogroup R1a1 Substantiates the Autochthonous Origin of Brahmins and the Caste SystemOrigin of Paternal Haplogroup R1a1. (abstract) Journal of Human Genetics, 54:47-55, 2009.
Shen et al, Reconstruction of Patrilineages and Matrilineages of Samaritans and other Israeli Populations from Y-Chromosome and Mitochondrial DNA Sequence Variation. (pdf) Human Mutation, 24:248-260, 2004.
Sims et al, Sub-Populations Within the Major European and African Derived Haplogroups R1b3 and E3a Are Differentiated by Previously Phylogenetically Undefined Y-SNPs. Human Mutation: Mutation in Brief #940, Online, 2007.
Su et al, Y-chromosome Evidence for a Northward Migration of Modern Humans into Eastern Asia during the Last Ice Age. (pdf) American Journal of Human Genetics, 65:1718-1724, 1999.
Underhill et al, Separating the Post-Glacial Coancestry of European and Asian Y Chromosomes within Haplogroup R1a. (abstract) European Journal of Human Genetics, 1-6, 2009.
Underhill et al, The Phylogenetic and Geographic Structure of Y-chromosome Haplogroup R1a. European Journal of Human Genetics, doi:10.1038/ejhg.2014.50, 2014.
Valone et al, Y SNP Typing of African-American and Caucasian Samples Using Allele-Specific Hybridization and Primer Extension. (pdf) Journal of Forensic Science, 49:4, July 2004.
Van Geystelen et al, In silico detection of phylogenetic informative Y-chromosomal single nucleotide polymorphisms from whole genome sequencing data. (abstract) ELECTROPHORESIS, doi: 10.1002/elps.201300459, 35:3102-10, Nov 2014.
Wells et al, The Eurasian Heartland: A Continental Perspective on Y-chromosome Diversity. PNAS, Vol. 98; 18:10244-10249, 2001.
Zhao et al, Presence of Three Different Paternal Lineages among North Indians: A Study of 560 Y Chromosomes. (abstract) Annals of Human Biology, 36(1):46-59, 2009.
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