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

Multicentre study of Y chromosome microdeletions in 1,808 Chinese infertile males using multiplex and real-time polymerase chain reaction

(2016) X.-B. Zhu et al.   ANDROLOGIA

Analysis of partial azoospermia factor c deletion andDAZcopy number in azoospermia and severe oligozoospermia

(2016) L. Alimardanian et al.   ANDROLOGIA

An Incomplete Understanding of Human Genetic Variation

(2016) J. Huddleston et al.   GENETICS

A time- and cost-effective strategy to sequence mammalian Y Chromosomes: an application to the de novo assembly of gorilla Y

(2016) Marta Tomaszkiewicz et al.   GENOME RESEARCH

Haplotyping germline and cancer genomes with high-throughput linked-read sequencing

(2016) Grace X Y Zheng et al.   NATURE BIOTECHNOLOGY

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

(2016) G David Poznik et al.   NATURE GENETICS

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

(2016) Jayne Y. Hehir-Kwa et al.   Nature Communications

The Biology and Evolution of Mammalian Y Chromosomes

(2015) Jennifer F. Hughes et al.   Annual Review of Genetics

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

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

Determined about sex: Sex-testing in 45 primate species using a 2Y/1X sex-typing assay

(2015) Valérie Choesmel Cadamuro et al.   Forensic Science International-Genetics

Read clouds uncover variation in complex regions of the human genome

(2015) Alex Bishara et al.   GENOME RESEARCH

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

(2015) Wei Wei et al.   HUMAN GENETICS

Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification

(2015) Kazuki Saito et al.   JOURNAL OF HUMAN GENETICS

An integrated map of structural variation in 2,504 human genomes

(2015) Peter H. Sudmant et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Genome-wide patterns and properties of de novo mutations in humans

(2015) Laurent C Francioli et al.   NATURE GENETICS

Large multiallelic copy number variations in humans

(2015) Robert E Handsaker et al.   NATURE GENETICS

Rapid and simultaneous screening of 47,XXY and AZF microdeletions by quadruplex real-time polymerase chain reaction

(2015) Yulin Zhou et al.   Reproductive Biology

Copy number variation and microdeletions of the Y chromosome linked genes and loci across different categories of Indian infertile males

(2015) Anju Kumari et al.   Scientific Reports

Common AZFc structure may possess the optimal spermatogenesis efficiency relative to the rearranged structures mediated by non-allele homologous recombination

(2015) Bo Yang et al.   Scientific Reports

Whole-genome CNV analysis: advances in computational approaches

(2015) Mehdi Pirooznia et al.   Frontiers in Genetics

PacBio Sequencing and Its Applications

(2015) Anthony Rhoads et al.   GENOMICS PROTEOMICS & BIOINFORMATICS

Microarray Analysis of Copy Number Variants on the Human Y Chromosome Reveals Novel and Frequent Duplications Overrepresented in Specific Haplogroups

(2015) Martin M. Johansson et al.   PLoS One

Deletion mapping of the regions with AMELY from two Chinese males

(2014) Jianhui Xie et al.   Legal Medicine

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators

(2014) Daniel W. Bellott et al.   NATURE

Whole-genome sequence variation, population structure and demographic history of the Dutch population

(2014) Laurent C Francioli et al.   NATURE GENETICS

Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory

(2013) Deborah Lo Giacco et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Detection of the deletion on Yp11.2 in a Chinese population

(2013) Wenjing Chen et al.   Forensic Science International-Genetics

Analysis of Y Chromosome Microdeletion in 1738 Infertile Men From Northeastern China

(2013) Yong-Sheng Zhang et al.   UROLOGY

Deletion of amelogenin Y-locus in forensics: Literature revision and description of a novel method for sex confirmation

(2013) P. Tozzo et al.   Journal of Forensic and Legal Medicine

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

Turner syndrome: new insights into an old disorder

(2012) Richard S. Legro   FERTILITY AND STERILITY

Chromosomes in the flow to simplify genome analysis

(2012) Jaroslav Doležel et al.   FUNCTIONAL & INTEGRATIVE GENOMICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Organizational and Functional Status of the Y-linked Genes and Loci in the Infertile Patients Having Normal Spermiogram

(2012) Anju Kumari et al.   PLoS One

High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number

(2011) Benjamin J. Hindson et al.   ANALYTICAL CHEMISTRY

Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count

(2011) Michiel J. Noordam et al.   HUMAN MOLECULAR GENETICS

Additional genomic duplications in AZFc underlie the b2/b3 deletion-associated risk of spermatogenic impairment in Han Chinese population

(2011) Chuncheng Lu et al.   HUMAN MOLECULAR GENETICS

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

(2011) Robert E Handsaker et al.   NATURE GENETICS

An Exceptional Gene: Evolution of the TSPY Gene Family in Humans and Other Great Apes

(2011) Yali Xue et al.   Genes

What about gr/gr deletions and male infertility? Systematic review and meta-analysis

(2010) Katrien Stouffs et al.   HUMAN REPRODUCTION UPDATE

The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility

(2010) P. Navarro-Costa et al.   HUMAN REPRODUCTION UPDATE

Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content

(2010) Jennifer F. Hughes et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Copy number variation on the human Y chromosome

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

Y chromosome TSPY copy numbers and semen quality

(2009) Bita Nickkholgh et al.   FERTILITY AND STERILITY

Y chromosome gr/gr deletions are a risk factor for low semen quality

(2009) L. Visser et al.   HUMAN REPRODUCTION

TSPY1Copy Number Variation Influences Spermatogenesis and Shows Differences among Y Lineages

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

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population

(2008) C. Lu et al.   HUMAN MOLECULAR GENETICS