标题
Timing, rates and spectra of human germline mutation
作者
关键词
-
出版物
NATURE GENETICS
Volume 48, Issue 2, Pages 126-133
出版商
Springer Nature
发表日期
2015-12-15
DOI
10.1038/ng.3469
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders
- (2014) Ian M. Campbell et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics
- (2014) Ian M. Campbell et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Novel de novo heterozygousFGFR1mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism
- (2014) Radhika Dhamija et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Determinants of Mutation Rate Variation in the Human Germline
- (2014) Laure Ségurel et al. Annual Review of Genomics and Human Genetics
- Toward better understanding of artifacts in variant calling from high-coverage samples
- (2014) Heng Li BIOINFORMATICS
- Guidelines for investigating causality of sequence variants in human disease
- (2014) D. G. MacArthur et al. NATURE
- Strong male bias drives germline mutation in chimpanzees
- (2014) O. Venn et al. SCIENCE
- The Paternal Age Effect: A Multifaceted Phenomenon
- (2013) Jamila R. Momand et al. BIOLOGY OF REPRODUCTION
- Gonadal mosaicism as a rare cause of autosomal recessive inheritance
- (2013) S. Anazi et al. CLINICAL GENETICS
- Germline mosaicism in Rubinstein–Taybi syndrome
- (2013) Mariam Tajir et al. GENE
- The influence of genomic context on mutation patterns in the human genome inferred from rare variants
- (2013) V. M. Schaibley et al. GENOME RESEARCH
- Signatures of mutational processes in human cancer
- (2013) Ludmil B. Alexandrov et al. NATURE
- DeNovoGear: de novo indel and point mutation discovery and phasing
- (2013) Avinash Ramu et al. NATURE METHODS
- A genomic view of mosaicism and human disease
- (2013) Leslie G. Biesecker et al. NATURE REVIEWS GENETICS
- Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism
- (2013) Tiziana Bachetti et al. PEDIATRIC PULMONOLOGY
- Genome Mosaicism--One Human, Multiple Genomes
- (2013) J. R. Lupski SCIENCE
- Properties and rates of germline mutations in humans
- (2013) Catarina D. Campbell et al. TRENDS IN GENETICS
- Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease
- (2012) Anne Goriely et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genome-wide Single-Cell Analysis of Recombination Activity and De Novo Mutation Rates in Human Sperm
- (2012) Jianbin Wang et al. CELL
- 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
- Revising the human mutation rate: implications for understanding human evolution
- (2012) Aylwyn Scally et al. NATURE REVIEWS GENETICS
- Genome analyses substantiate male mutation bias in many species
- (2011) Melissa A. Wilson Sayres et al. BIOESSAYS
- The Human Cleavage Stage Embryo Is a Cradle of Chromosomal Rearrangements
- (2011) T. Voet et al. CYTOGENETIC AND GENOME RESEARCH
- DO VARIATIONS IN SUBSTITUTION RATES AND MALE MUTATION BIAS CORRELATE WITH LIFE-HISTORY TRAITS? A STUDY OF 32 MAMMALIAN GENOMES
- (2011) Melissa A. Wilson Sayres et al. EVOLUTION
- Variation in genome-wide mutation rates within and between human families
- (2011) Donald F Conrad et al. NATURE GENETICS
- Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
- (2010) J. C. Roach et al. SCIENCE
- Biased Gene Conversion and the Evolution of Mammalian Genomic Landscapes
- (2009) Laurent Duret et al. Annual Review of Genomics and Human Genetics
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
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