Copy number variation

More Enrico Vaudano's questions See All

How to reduce compressive stiffness when performing low velocity impact (LVI) and compression after impact (CAI) simulation in ABAQUS ?

I was trying to create a FEM model of an LVI and CAI experiment. For the CAI simulation, the load displacement curve I obtained is way too stiff compared to the experimental result. The maximum...

06 July 2023 1,742 6 View

What can cause loss of pigmentation in ants samples?

I'm currently working on samples of Formica rufa group that where caught on the Italian Alps probably around ten/fifteen years ago. Some of the test tubes show ants preserving a normal...

02 March 2023 7,942 3 View

What is the best way to index the faces of a large single crystal with a powder diffractometer?

Any tips would be highly appreciated. The diffractometer is a Bruker D8 Advance. My first thought is to mount a UBC collimator and set the sample height with a UMC sample stage (XYZ...

08 January 2023 3,951 5 View

How can I decide if a dialysis patient needs ambulance transport?

Is there a tool to determine if a dialysis patient needs ambulance transport? Is there a tool that allows me to understand the degree of autonomy of the dialysis patient? The goal is to evaluate...

27 May 2022 9,191 7 View

Holographic Virtual Reality projecting on eye's retina, is it possible?

I want to know if my supposition is possible and achievable, or if it is impossible. I was considering that colors are just reflection of the light toward the eye's retina. It is the case because...

16 April 2022 1,856 6 View

How coefficient of friction and lubrication regime are related?

I'm currently working on ball-on-disk tribological test using different oils. Is there a direct relation between the coefficient of friction and the lubrication regime of the coupled surfaces? Is...

27 March 2022 4,783 5 View

Are there any pubblication about arctic habitat restoration for polar bears?

Our university project group is studying the possibility to apply a plan for the (local) restoration of ice based habitats of polar bears (Ursus maritimus). Has the idea already been developed in...

29 November 2021 6,029 2 View

STAC plugin for QGIS?

Does anyone know if there is a dedicated plugin for QGIS for browsing STAC catalogue datasets? Seems that once there was one, but now is not anymore...

22 November 2021 7,573 3 View

Cell membrane protein purification from zebrafish brain tissue?

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08 June 2021 8,823 3 View

Works showing the morphology of Mobulidae tail spines?

Hi everyone, I know the presence of a tail spine isn't a common feature for Mobulidae, but i cannot find any image / description regarding the argument, both for living or extinct specie. Any help?

28 May 2021 6,990 0 View

What precautions should be taken while handling S. aureus enterotoxin Type B in the lab?

I would like to understand potential safety concerns while handling SEB in the lab. Especially while working in animal house facility. Would like to know precautions for handling. Sigma MSDS...

07 August 2024 6,034 3 View

How do soil microflora interact with plant roots and influence plant nutrition, health, and productivity?

06 August 2024 9,618 3 View

How to understand this crystallographic phenomenon of low temperature crystals in zeolite?

During low-temperature testing, new diffraction peaks that appear could be indicative of several phenomena. In one of our tests, we observed notable new peaks around 40° and 45° in a specific...

06 August 2024 726 3 View

Does atmosphere affect flow of matter & energy on Earth & flow of energy in biosphere related to the flow of food through a food chain?

How does the atmosphere affect the flow of matter and energy on Earth and flow of energy in the biosphere related to the flow of food through a food chain?

02 August 2024 9,644 0 View

Do some Staphylococcus aureus strains have in vitro antimycobacterial activity ?

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29 July 2024 10,023 2 View

How does the Retention time effect the Biogas Production?

List down the various factors responsible and how does this effect the overall biogas production when it is related to Hydraulic retention time of the digester based on the feedstock?

27 July 2024 4,800 4 View

How do we pick data for determination of Validation Acceptance Criteria?

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23 July 2024 7,292 3 View

What does negative readings in spectrophotometer denote. Was testing TSS content of bacterial cultures?

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22 July 2024 9,576 4 View

What is climate resilience for food security and sustainable agriculture and how is smart irrigation in agriculture climate resilient?

22 July 2024 1,947 0 View

When I am trying to distill triethyl amine while drying it over calcium hydride. How do I design the setup to let hydrogen escape without losing NEt3?

I am new to research. The boiling point of triethyl amine (NEt3) is 89 degrees centigrade. I am skeptical that when I will let the hydrogen escape which is getting generated in situ, I will also...

21 July 2024 7,284 4 View

Pranay A. M.

Dear Enrico

Check this publication, hope this will help u

Saxena, Sonal, et al. "Improved Multiplex Ligation-dependent Probe Amplification (i-MLPA) for rapid copy number variant (CNV) detection." Clinica Chimica Acta 450 (2015): 19-24.

Fritz J Sedlazeck

One of the easiest approach is Ginkgo (http://qb.cshl.edu/ginkgo) . It was published for low coverage / single cell data. Check it out if you like.