Unveiling the Secrets of CNV through Discovery and Characterization

Jan 12, 2025

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This study delves into the discovery and deep analysis of copy number variations (CNV), shedding light on their significance and impact, as reported in Nature. The researchers provide valuable insights into CNV patterns, mechanisms, and potential implications for various genetic studies.

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Unveiling the Secrets of CNV through Discovery and Characterization

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CNV discovery and characterization. D Pinto et al.Nature000, 1-5 (2010) doi:10.1038/nature09146

RF Say &G Fuchs Nature 000 , 1-5 (2010) doi:10.1038/nature08884

Phylogenetic tree of FBP aldolases/phosphatases (compare with the ribosomal proteins trees in Fig.1). RF Say &G Fuchs Nature 000 , 1-5 (2010) doi:10.1038/nature08884.

104 views • 1 slides

M Ravi & SWL Chan Nature 464 , 615-618 (2010) doi:10.1038/nature08842

A natural Arabidopsis tetraploid converted to diploid by centromere-mediated genome elimination. M Ravi & SWL Chan Nature 464 , 615-618 (2010) doi:10.1038/nature08842.

150 views • 1 slides

A Aguirre et al. Nature 467 , 323-327 (2010) doi:10.1038/nature09347

EGFR overexpression downregulates Notch signalling in the SVZ, and NICD overexpression rescues proliferation and self-renewal of SVZ NSCs. A Aguirre et al. Nature 467 , 323-327 (2010) doi:10.1038/nature09347.

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J Chandrashekar et al. Nature 000 , 1-5 (2010) doi:10.1038/nature08783

ENaC is necessary for high sensitivity taste responses to sodium salts. J Chandrashekar et al. Nature 000 , 1-5 (2010) doi:10.1038/nature08783.

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T Matsui et al. Nature 000 , 1-5 (2010) doi:10.1038/nature08858

Intrinsic KMTase activity is crucial for ESET-mediated ERV silencing. T Matsui et al. Nature 000 , 1-5 (2010) doi:10.1038/nature08858.

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CL Salter et al. Nature 465 , 594 - 597 (2010) doi:10.1038/nature09078

Polarized pair-correlation results from a.c. electrical injection into the ELED. CL Salter et al. Nature 465 , 594 - 597 (2010) doi:10.1038/nature09078.

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DM Altshuler et al. Nature 467 , 52-58 (2010) doi:10.1038/nature09298

Size and frequency spectra of common and rare CNPs. DM Altshuler et al. Nature 467 , 52-58 (2010) doi:10.1038/nature09298.

117 views • 1 slides

K Naka et al. Nature 463 , 676-680 (2010) doi:10.1038/nature08734

TGF-  –Foxo signalling is required for the colony-forming capacity of LICs. K Naka et al. Nature 463 , 676-680 (2010) doi:10.1038/nature08734.

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R Reyes et al. Nature 464 , 256-258 (2010) doi:10.1038/nature08857

Probes of large-scale structure measured from  70,000 LRGs. R Reyes et al. Nature 464 , 256-258 (2010) doi:10.1038/nature08857.

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I Itzhaki et al. Nature 000 , 1-5 (2010) doi:10.1038/nature09747

Phenotypic characterization of LQTS human iPSC-derived cardiac-tissue. I Itzhaki et al. Nature 000 , 1-5 (2010) doi:10.1038/nature09747.

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JY Han et al. Nature 000 , 1 - 5 (2010) doi:10.1038/nature08 735

OSKT iPS cells show enhanced germ-line contribution and transmission. JY Han et al. Nature 000 , 1 - 5 (2010) doi:10.1038/nature08 735.

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R Balasubramanian et al . Nature 000 , 1 - 5 (2010) doi:10.1038/nature08 992

Copper EXAFS data and simulations for pMMO and spmoB variants. R Balasubramanian et al . Nature 000 , 1 - 5 (2010) doi:10.1038/nature08 992.

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DV Hansen et al. Nature 000 , 1-8 (2010) doi:10.1038/nature08845

The human OSVZ is the predominant neurogenic zone during mid-gestational cortical development. DV Hansen et al. Nature 000 , 1-8 (2010) doi:10.1038/nature08845.

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JW Holt et al. Nature 465 , 446-449 (2010) doi:10.1038/nature09050

HiRISE image PSP_009914_2750 showing depositional relationship between NPLD and basal unit. JW Holt et al. Nature 465 , 446-449 (2010) doi:10.1038/nature09050.

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J Schwenk et al. Nature 000 , 1-5 (2010) doi:10.1038/nature08964

Expression profile and subcellular localization of KCTD proteins in the brain. J Schwenk et al. Nature 000 , 1-5 (2010) doi:10.1038/nature08964.

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H Ko et al. Nature 468 , 286-289 (2010) doi:10.1038/nature09541

Back-gated, long-channel InAs XOI FETs. H Ko et al. Nature 468 , 286-289 (2010) doi:10.1038/nature09541.

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J Seo et al. Nature 466 , 343-346 (2010) doi:10.1038/nature09189

Lifetime and leakage of quantized quasiparticles. J Seo et al. Nature 466 , 343-346 (2010) doi:10.1038/nature09189.

120 views • 1 slides

ZH Gao et al . Nature 000 , 1 - 4 (2010) doi:10.1038/nature09025

Effects of rdm1-1 on siRNA and transcript levels and DNA methylation at endogenous RdDM target loci. ZH Gao et al . Nature 000 , 1 - 4 (2010) doi:10.1038/nature09025.

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J Fellay et al. Nature 000 , 1-4 (2010) doi:10.1038/nature08825

Two ITPA polymorphisms known to be responsible for inosine triphosphatase deficiency co-segregate with the rs6051702 C allele that strongly associates with protection against Hb reduction in European- Americans. J Fellay et al. Nature 000 , 1-4 (2010) doi:10.1038/nature08825.

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MV Meer et al. Nature 000 , 1-4 (2010) doi:10.1038/nature08691

Fitness landscapes resulting from an interaction between two complementary sites in an RNA stem structure. MV Meer et al. Nature 000 , 1-4 (2010) doi:10.1038/nature08691.

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F Huang et al. Nature 464 , 396-400 (2010) doi:10.1038/nature08840

Cross-correlations of magnesium, iron and calcium isotope ratios for both the thermal diffusion experiments of refs 6, 16 and previous work. F Huang et al. Nature 464 , 396-400 (2010) doi:10.1038/nature08840.

195 views • 1 slides

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Unveiling the Secrets of CNV through Discovery and Characterization

Unveiling the Secrets of CNV through Discovery and Characterization

Presentation Transcript

RF Say &amp;G Fuchs Nature 000 , 1-5 (2010) doi:10.1038/nature08884

M Ravi &amp; SWL Chan Nature 464 , 615-618 (2010) doi:10.1038/nature08842

A Aguirre et al. Nature 467 , 323-327 (2010) doi:10.1038/nature09347

J Chandrashekar et al. Nature 000 , 1-5 (2010) doi:10.1038/nature08783

T Matsui et al. Nature 000 , 1-5 (2010) doi:10.1038/nature08858

CL Salter et al. Nature 465 , 594 - 597 (2010) doi:10.1038/nature09078

DM Altshuler et al. Nature 467 , 52-58 (2010) doi:10.1038/nature09298

K Naka et al. Nature 463 , 676-680 (2010) doi:10.1038/nature08734

R Reyes et al. Nature 464 , 256-258 (2010) doi:10.1038/nature08857

I Itzhaki et al. Nature 000 , 1-5 (2010) doi:10.1038/nature09747

JY Han et al. Nature 000 , 1 - 5 (2010) doi:10.1038/nature08 735

R Balasubramanian et al . Nature 000 , 1 - 5 (2010) doi:10.1038/nature08 992

DV Hansen et al. Nature 000 , 1-8 (2010) doi:10.1038/nature08845

JW Holt et al. Nature 465 , 446-449 (2010) doi:10.1038/nature09050

J Schwenk et al. Nature 000 , 1-5 (2010) doi:10.1038/nature08964

H Ko et al. Nature 468 , 286-289 (2010) doi:10.1038/nature09541

J Seo et al. Nature 466 , 343-346 (2010) doi:10.1038/nature09189

ZH Gao et al . Nature 000 , 1 - 4 (2010) doi:10.1038/nature09025

J Fellay et al. Nature 000 , 1-4 (2010) doi:10.1038/nature08825

MV Meer et al. Nature 000 , 1-4 (2010) doi:10.1038/nature08691

F Huang et al. Nature 464 , 396-400 (2010) doi:10.1038/nature08840

RF Say &G Fuchs Nature 000 , 1-5 (2010) doi:10.1038/nature08884

M Ravi & SWL Chan Nature 464 , 615-618 (2010) doi:10.1038/nature08842