Human Y-chromosome variation in the genome-sequencing era

Detecting past male-mediated expansions using the Y chromosome

(2017) Chiara Batini et al.   HUMAN GENETICS

Forensic use of Y-chromosome DNA: a general overview

(2017) Manfred Kayser   HUMAN GENETICS

Genetic differentiation between upland and lowland populations shapes the Y-chromosomal landscape of West Asia

(2017) O. Balanovsky et al.   HUMAN GENETICS

Human Y chromosome copy number variation in the next generation sequencing era and beyond

(2017) Andrea Massaia et al.   HUMAN GENETICS

The study of human Y chromosome variation through ancient DNA

(2017) Toomas Kivisild   HUMAN GENETICS

Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility

(2017) Daniel J Wright et al.   NATURE GENETICS

Population-Scale Sequencing Data Enable Precise Estimates of Y-STR Mutation Rates

(2016) Thomas Willems et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human Y Chromosome Haplogroup N: A Non-trivial Time-Resolved Phylogeography that Cuts across Language Families

(2016) Anne-Mai Ilumäe et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease

(2016) Jan P. Dumanski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Divergence of Neandertal and Modern Human Y Chromosomes

(2016) Fernando L. Mendez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deep Roots for Aboriginal Australian Y Chromosomes

(2016) Anders Bergström et al.   CURRENT BIOLOGY

The Y chromosome as the most popular marker in genetic genealogy benefits interdisciplinary research

(2016) Francesc Calafell et al.   HUMAN GENETICS

Cognitive, behavioral, and neural consequences of sex chromosome aneuploidy

(2016) Frida Printzlau et al.   JOURNAL OF NEUROSCIENCE RESEARCH

AstraZeneca launches project to sequence 2 million genomes

(2016) Heidi Ledford   NATURE

Mosaic loss of chromosome Y is associated with common variation near TCL1A

(2016) Weiyin Zhou et al.   NATURE GENETICS

Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

(2016) G David Poznik et al.   NATURE GENETICS

Mosaicism in health and disease — clones picking up speed

(2016) Lars A. Forsberg et al.   NATURE REVIEWS GENETICS

Coming of age: ten years of next-generation sequencing technologies

(2016) Sara Goodwin et al.   NATURE REVIEWS GENETICS

Human Germline Mutation and the Erratic Evolutionary Clock

(2016) Priya Moorjani et al.   PLOS BIOLOGY

Loss of Y Chromosome in Peripheral Blood of Colorectal and Prostate Cancer Patients

(2016) Predrag Noveski et al.   PLoS One

Structural variation on the human Y chromosome from population-scale resequencing

(2015) Jose Rodrigo Flores Espinosa et al.   CROATIAN MEDICAL JOURNAL

Y-chromosome diversity in Catalan surname samples: insights into surname origin and frequency

(2015) Neus Solé-Morata et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The relationship between surname frequency and Y chromosome variation in Spain

(2015) Conrado Martinez-Cadenas et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

New data shed light on Y-loss-related pathogenesis in myelodysplastic syndromes

(2015) Christina Ganster et al.   GENES CHROMOSOMES & CANCER

A recent bottleneck of Y chromosome diversity coincides with a global change in culture

(2015) Monika Karmin et al.   GENOME RESEARCH

Three hundred years of low non-paternity in a human population

(2015) J M Greeff et al.   HEREDITY

Copy number variation in the human Y chromosome in the UK population

(2015) Wei Wei et al.   HUMAN GENETICS

Massive migration from the steppe was a source for Indo-European languages in Europe

(2015) Wolfgang Haak et al.   NATURE

Population genomics of Bronze Age Eurasia

(2015) Morten E. Allentoft et al.   NATURE

The DNA of a nation

(2015) Vivien Marx   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

The Y-chromosome point mutation rate in humans

(2015) Agnar Helgason et al.   NATURE GENETICS

Genetic variation and the de novo assembly of human genomes

(2015) Mark J. P. Chaisson et al.   NATURE REVIEWS GENETICS

Large-scale recent expansion of European patrilineages shown by population resequencing

(2015) Chiara Batini et al.   Nature Communications

DDX3Y gene rescue of a Y chromosome AZFa deletion restores germ cell formation and transcriptional programs

(2015) Cyril Ramathal et al.   Scientific Reports

Deep Phylogenetic Analysis of Haplogroup G1 Provides Estimates of SNP and STR Mutation Rates on the Human Y-Chromosome and Reveals Migrations of Iranic Speakers

(2015) Oleg Balanovsky et al.   PLoS One

Determinants of Mutation Rate Variation in the Human Germline

(2014) Laure Ségurel et al.   Annual Review of Genomics and Human Genetics

Y Chromosome gr/gr Subdeletion Is Associated with Lower Semen Quality in Young Men from the General Japanese Population but Not in Fertile Japanese Men1

(2014) Youichi Sato et al.   BIOLOGY OF REPRODUCTION

An unbiased resource of novel SNP markers provides a new chronology for the human Y chromosome and reveals a deep phylogenetic structure in Africa

(2014) R. Scozzari et al.   GENOME RESEARCH

Gene Conversion Violates the Stepwise Mutation Model for Microsatellites in Y-Chromosomal Palindromic Repeats

(2014) Patricia Balaresque et al.   HUMAN MUTATION

Inter- and Intraspecies Phylogenetic Analyses Reveal Extensive X–Y Gene Conversion in the Evolution of Gametologous Sequences of Human Sex Chromosomes

(2014) Beniamino Trombetta et al.   MOLECULAR BIOLOGY AND EVOLUTION

The Y-Chromosome Tree Bursts into Leaf: 13,000 High-Confidence SNPs Covering the Majority of Known Clades

(2014) P. Hallast et al.   MOLECULAR BIOLOGY AND EVOLUTION

Origins and functional evolution of Y chromosomes across mammals

(2014) Diego Cortez et al.   NATURE

Genome sequence of a 45,000-year-old modern human from western Siberia

(2014) Qiaomei Fu et al.   NATURE

Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer

(2014) Lars A Forsberg et al.   NATURE GENETICS

The impact of whole-genome sequencing on the reconstruction of human population history

(2014) Krishna R. Veeramah et al.   NATURE REVIEWS GENETICS

Y Chromosomes of 40% Chinese Descend from Three Neolithic Super-Grandfathers

(2014) Shi Yan et al.   PLoS One

Smoking is associated with mosaic loss of chromosome Y

(2014) J. P. Dumanski et al.   SCIENCE

Natural Selection Reduced Diversity on Human Y Chromosomes

(2014) Melissa A. Wilson Sayres et al.   PLoS Genetics

Genetic Basis of Y-Linked Hearing Impairment

(2013) Qiuju Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

eXclusion: Toward Integrating the X Chromosome in Genome-wide Association Analyses

(2013) Anastasia L. Wise et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree

(2013) Fernando L. Mendez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A comparison of Y-chromosomal lineage dating using either resequencing or Y-SNP plus Y-STR genotyping

(2013) Wei Wei et al.   Forensic Science International-Genetics

A significant effect of the TSPY1 copy number on spermatogenesis efficiency and the phenotypic expression of the gr/gr deletion

(2013) Ying Shen et al.   HUMAN MOLECULAR GENETICS

Y-chromosome evolution: emerging insights into processes of Y-chromosome degeneration

(2013) Doris Bachtrog   NATURE REVIEWS GENETICS

Low historical rates of cuckoldry in a Western European human population traced by Y-chromosome and genealogical data

(2013) M. H. D. Larmuseau et al.   PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Low-Pass DNA Sequencing of 1200 Sardinians Reconstructs European Y-Chromosome Phylogeny

(2013) P. Francalacci et al.   SCIENCE

Identifying Personal Genomes by Surname Inference

(2013) M. Gymrek et al.   SCIENCE

Sequencing Y Chromosomes Resolves Discrepancy in Time to Common Ancestor of Males Versus Females

(2013) G. D. Poznik et al.   SCIENCE

Recombination Dynamics of a Human Y-Chromosomal Palindrome: Rapid GC-Biased Gene Conversion, Multi-kilobase Conversion Tracts, and Rare Inversions

(2013) Pille Hallast et al.   PLoS Genetics

AZFc Deletions and Spermatogenic Failure: A Population-Based Survey of 20,000 Y Chromosomes

(2012) Steven G. Rozen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A calibrated human Y-chromosomal phylogeny based on resequencing

(2012) W. Wei et al.   GENOME RESEARCH

Inheritance of coronary artery disease in men: an analysis of the role of the Y chromosome

(2012) Fadi J Charchar et al.   LANCET

Discovery of Western European R1b1a2 Y Chromosome Variants in 1000 Genomes Project Data: An Online Community Approach

(2012) Richard A. Rocca et al.   PLoS One

A new future of forensic Y-chromosome analysis: Rapidly mutating Y-STRs for differentiating male relatives and paternal lineages

(2011) Kaye N. Ballantyne et al.   Forensic Science International-Genetics

Sex-specific demographic behaviours that shape human genomic variation

(2011) E. HEYER et al.   MOLECULAR ECOLOGY

Mutability of Y-Chromosomal Microsatellites: Rates, Characteristics, Molecular Bases, and Forensic Implications

(2010) Kaye N. Ballantyne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic make up and structure of Colombian populations by means of uniparental and biparental DNA markers

(2010) Winston Rojas et al.   AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

(2010) Ingrid L Berg et al.   NATURE GENETICS

A Predominantly Neolithic Origin for European Paternal Lineages

(2010) Patricia Balaresque et al.   PLOS BIOLOGY

Remarkably Little Variation in Proteins Encoded by the Y Chromosome's Single-Copy Genes, Implying Effective Purifying Selection

(2009) Steve Rozen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gene Conversion between the X Chromosome and the Male-Specific Region of the Y Chromosome at a Translocation Hotspot

(2009) Zoë H. Rosser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Inferring Continental Ancestry of Argentineans from Autosomal, Y-Chromosomal and Mitochondrial DNA

(2009) Daniel Corach et al.   ANNALS OF HUMAN GENETICS

Human Y Chromosome Base-Substitution Mutation Rate Measured by Direct Sequencing in a Deep-Rooting Pedigree

(2009) Yali Xue et al.   CURRENT BIOLOGY

Copy number variation on the human Y chromosome

(2009) M.A. Jobling   CYTOGENETIC AND GENOME RESEARCH

TSPY1Copy Number Variation Influences Spermatogenesis and Shows Differences among Y Lineages

(2009) Claudia Giachini et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Footprints of X-to-Y Gene Conversion in Recent Human Evolution

(2009) B. Trombetta et al.   MOLECULAR BIOLOGY AND EVOLUTION

Founders, Drift, and Infidelity: The Relationship between Y Chromosome Diversity and Patrilineal Surnames

(2009) T. E. King et al.   MOLECULAR BIOLOGY AND EVOLUTION

The Will-o'-the-Wisp of Genetics — Hunting for the Azoospermia Factor Gene

(2009) Chris Tyler-Smith et al.   NEW ENGLAND JOURNAL OF MEDICINE

Bateman's principles and human sex roles

(2009) Gillian R. Brown et al.   TRENDS IN ECOLOGY & EVOLUTION

What's in a name? Y chromosomes, surnames and the genetic genealogy revolution

(2009) Turi E. King et al.   TRENDS IN GENETICS

Partial AZFc deletions and duplications: clinical correlates in the Italian population

(2008) Claudia Giachini et al.   HUMAN GENETICS

Mortality in Women with Turner Syndrome in Great Britain: A National Cohort Study

(2008) Minouk J. Schoemaker et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer

(2008) Ryohei Sekido et al.   NATURE

Sex-specific genetic architecture of human disease

(2008) Carole Ober et al.   NATURE REVIEWS GENETICS