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Ultra-rare Disease and Genomics-Driven Precision MedicineMutational signatures associated with tobacco smoking in human cancerNew insights into the generation and role of de novo mutations in health and diseaseMutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal DysplasiaSomatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjectsThe population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequencesHuman Germline Mutation and the Erratic Evolutionary ClockCauses and evolutionary consequences of primordial germ-cell specification mode in metazoans.Ancient genes establish stress-induced mutation as a hallmark of cancerLocalized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegansWhole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples.Tissue Sources for Accurate Measurement of Germline DNA Genotypes in Prostate Cancer Patients Treated With Radical Prostatectomy.Low Genetic Quality Alters Key Dimensions of the Mutational Spectrum.Population-Scale Sequencing Data Enable Precise Estimates of Y-STR Mutation RatesSingle genome retrieval of context-dependent variability in mutation rates for human germlineDifferences in the rare variant spectrum among human populations.A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.Spermatogonial Stem Cells: Implications for Genetic Disorders and Prevention.Early somatic mosaicism is a rare cause of long-QT syndrome.In Utero Exposure to Benzo[a]Pyrene Increases Mutation Burden in the Soma and Sperm of Adult Mice.Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.Advanced paternal age effects in neurodevelopmental disorders-review of potential underlying mechanisms.Hierarchical tissue organization as a general mechanism to limit the accumulation of somatic mutations.Lessons learned from additional research analyses of unsolved clinical exome cases.The time dimension and the future of infertility treatments.Contrasting Determinants of Mutation Rates in Germline and Soma.Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.Parental age and risk of pediatric cancer in the offspring: a population-based record-linkage study in California.The interaction between cytosine methylation and processes of DNA replication and repair shape the mutational landscape of cancer genomes.Mosaicism in health and disease - clones picking up speed.Understanding mutagenesis through delineation of mutational signatures in human cancer.Somatic mutations reveal asymmetric cellular dynamics in the early human embryo.Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.Prevalence and architecture of de novo mutations in developmental disorders.APOBEC3A/B-induced mutagenesis is responsible for 20% of heritable mutations in the TpCpW context.Selective mutation accumulation: a computational model of the paternal age effect.Decoding germline de novo point mutations.Parent-of-origin-specific signatures of de novo mutations.One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin.
P2860
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P2860
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Timing, rates and spectra of human germline mutation.
@ast
Timing, rates and spectra of human germline mutation.
@en
type
label
Timing, rates and spectra of human germline mutation.
@ast
Timing, rates and spectra of human germline mutation.
@en
prefLabel
Timing, rates and spectra of human germline mutation.
@ast
Timing, rates and spectra of human germline mutation.
@en
P2093
P2860
P50
P356
P1433
P1476
Timing, rates and spectra of human germline mutation.
@en
P2093
Andrew Morris
Matthew E Hurles
Raheleh Rahbari
Robert J Hardwick
Saeed Al Turki
UK10K Consortium
P2860
P2888
P304
P356
10.1038/NG.3469
P407
P50
P577
2015-12-14T00:00:00Z