The Y-chromosome point mutation rate in humans

The ‘extremely ancient’ chromosome that isn’t: a forensic bioinformatic investigation of Albert Perry’s X-degenerate portion of the Y chromosome

(2014) Eran Elhaik et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

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

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

(2013) P. Francalacci 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

A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root

(2012) Doron M. Behar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

(2012) Jacob J. Michaelson et al.   CELL

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis

(2012) Lei Sun et al.   NATURE GENETICS

Estimating the human mutation rate using autozygosity in a founder population

(2012) Catarina D Campbell et al.   NATURE GENETICS

Revising the human mutation rate: implications for understanding human evolution

(2012) Aylwyn Scally et al.   NATURE REVIEWS GENETICS

A Revised Root for the Human Y Chromosomal Phylogenetic Tree: The Origin of Patrilineal Diversity in Africa

(2011) Fulvio Cruciani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pervasive Multinucleotide Mutational Events in Eukaryotes

(2011) Daniel R. Schrider et al.   CURRENT BIOLOGY

Variation in genome-wide mutation rates within and between human families

(2011) Donald F Conrad et al.   NATURE GENETICS

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

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

SeqEM: an adaptive genotype-calling approach for next-generation sequencing studies

(2010) E. R. Martin et al.   BIOINFORMATICS

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

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

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

(2009) Yali Xue et al.   CURRENT BIOLOGY

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

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