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Analysis of genetic inheritance in a family quartet by whole-genome sequencing

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

http://www.wikidata.org/entity/Q22065898

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Exome sequencing identifies ZNF644 mutations in high myopia Relationship estimation from whole-genome sequence data Phased whole-genome genetic risk in a family quartet using a major allele reference sequence Variation in genome-wide mutation rates within and between human families Insights into hominid evolution from the gorilla genome sequence An autosomal analysis gives no genetic evidence for complex speciation of humans and chimpanzees Clinical utility of sequence-based genotype compared with that derivable from genotyping arrays Personalized medicine: hope or hype?An unbiased resource of novel SNP markers provides a new chronology for the human Y chromosome and reveals a deep phylogenetic structure in Africa Chromosomal haplotypes by genetic phasing of human families Cleft lip and palate: understanding genetic and environmental influences Genome-wide detection of single-nucleotide and copy-number variations of a single human cell An African American paternal lineage adds an extremely ancient root to the human Y chromosome phylogenetic tree A map of human genome variation from population-scale sequencing Direct measure of the de novo mutation rate in autism and schizophrenia cohorts Estimating the human mutation rate using autozygosity in a founder population Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome Rate of de novo mutations and the importance of father's age to disease risk Rates and fitness consequences of new mutations in humans Fifteen years of genomewide scans for selection: trends, lessons and unaddressed genetic sources of complication The role of large pedigrees in an era of high-throughput sequencing Promise of personalized omics to precision medicine Disease gene identification strategies for exome sequencing Annotating individual human genomes Translational bioinformatics: linking the molecular world to the clinical world Investigative pathology: leading the post-genomic revolution Using familial information for variant filtering in high-throughput sequencing studies Mitochondrial genetics and obesity: evolutionary adaptation and contemporary disease susceptibility Systems cancer medicine: towards realization of predictive, preventive, personalized and participatory (P4) medicine Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations Evidence for SH2 domain-containing 5'-inositol phosphatase-2 (SHIP2) contributing to a lymphatic dysfunction New insights into the generation and role of de novo mutations in health and disease Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51 Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency Novel diet-related mouse model of colon cancer parallels human colon cancer Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease Epigenetic reduction of DNA repair in progression to gastrointestinal cancer Regional Differences in the Accumulation of SNPs on the Male-Specific Portion of the Human Y Chromosome Replicate Autosomal Patterns: Implications for Genetic Dating

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P2860

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

http://www.wikidata.org/entity/Q22065898

description

2010 nî lūn-bûn

@nan

2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2010年の論文

@ja

2010年論文

@yue

2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

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name

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

@ast

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

@en

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

@en-gb

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

@nl

type

label

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

@ast

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

@en

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

@en-gb

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

@nl

prefLabel

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

@ast

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

@en

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

@en-gb

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

@nl

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SCIENCE.1186802

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Analysis of genetic inheritance in a family quartet by whole-genome sequencing

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Arian F A Smit

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Chad D Huff

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David J Galas

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Jared C Roach

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Lynn B Jorde

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Nathan Goodman

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Paul T Shannon

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P2860

Initial sequence of the chimpanzee genome and comparison with the human genome

A new hominid from the Upper Miocene of Chad, Central Africa

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

Genomic divergences between humans and other hominoids and the effective population size of the common ancestor of humans and chimpanzees.

Estimate of the mutation rate per nucleotide in humans

Exome sequencing identifies the cause of a mendelian disorder

Targeted capture and massively parallel sequencing of 12 human exomes

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

On the number of segregating sites in genetical models without recombination

Late Miocene teeth from Middle Awash, Ethiopia, and early hominid dental evolution

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495368

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10.1126/SCIENCE.1186802

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328

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2010-04-30T00:00:00Z

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20220176

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