Tag: provean

Molecular complexity of diffuse large B-cell lymphoma: a molecular perspective and therapeutic implications

Agarwal P, Kabir FM, DeInnocentes P, Bird RC (2012) Tumor suppressor gene p16/INK4A/CDKN2A and its role in cell cycle exit, differentiation, and determination of cell fate. Tumor Suppressor Genes 3(10):27882 Google Scholar  Alaggio R, Amador C, Anagnostopoulos I, Attygalle AD, Araujo IBO, Berti E et al (2022) The 5th edition…

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Some common deleterious mutations are shared in SARS-CoV-2 genomes from deceased COVID-19 patients across continents

Demographic summary of the retrieved genomes of the SARS-CoV-2 To investigate the spectrum of nucleotide (NT) and amino acid (AA) mutations and their effects  in different variants of the SARS-CoV-2, sequenced from COVID-19 deceased patients, we retrieved 243,270 whole genome sequence (WGS) with high read coverage (> 29,000 bp) from the global initiative…

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Genomic Identified PenR E151V Substitution in BCC

Ya-Chun Liao,1 Yao-Ting Huang,2,* Chien-Hao Tseng,1 Chia-Wei Liu,1 Po-Yu Liu1,3,4,* 1Division of Infectious Diseases, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung, Taiwan; 2Department of Computer Science and Information Engineering, National Chung Cheng University, Chiayi, Taiwan; 3Department of Post-Baccalaureate Medicine, National Chung Hsing University, Taichung, Taiwan; 4Genome Center for…

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BLAST database name is missing. Please edit provean.sh file to add the name.

Hi, I’m trying to install provean and use it on my local machine. I get the following error. error: BLAST database name is missing. Please edit provean.sh file to add the name. I am configuring provean by this command line: ./configure –prefix=/home/elham123456/linux/provean-1.1.5 PSIBLAST=/home/elham123456/linux/provean-1.1.5/ncbi-blast-2.14.0+/bin/psiblast BLASTDBCMD=/home/elham123456/linux/provean-1.1.5/ncbi-blast-2.14.0+/bin/blastdbcmd CDHIT=/home/elham123456/linux/provean-1.1.5/cd-hit/bin/cd-hit BLAST_DB=/home/elham123456/linux/provean-1.1.5/nr_sep_2012/nr and it is my…

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SORL1 | ALZFORUM

c.-2484C>A Substitution Non-Coding Upstream of 5′ UTR Zhang et al., 2015 c.-1287T>C(SNP 1) Substitution Non-Coding Upstream of 5′ UTR Rogaeva et al., 2007 c.-1204G>T Substitution Non-Coding Upstream of 5′ UTR Zhang et al., 2015 A2G Substitution Substitution | Missense Coding Exon 1 Unknown. Unknown. Holstege et al., 2022 S6T Substitution…

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Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder

GBD 2016 Disease Injury Incidence Prevalence Collaborators. Global, regional, and national incidence, prevalence, and years lived with disability for 328 diseases and injuries for 195 countries, 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016. Lancet. 2017;390:1211–59. Article  Google Scholar  Kato T. Current understanding of bipolar disorder:…

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MUTYH germline mutations in Colombian patients

Lisa Ximena Rodriguez-Rojas,1,2 Estephania Candelo,3,4 Harry Pachajoa,1,2,4 Juan Esteban Garcia-Robledo,3 Jose Antonio Nastasi-Catanese,1,2 Jorge Andres Olave-Rodriguez,2 Angela R Zambrano5 1Department of Human Genetics, Fundación Valle del Lili, Cali, Colombia; 2Faculty of Health Sciences, Universidad Icesi, Cali, Colombia; 3Fundación Valle del Lili, Centro de Investigaciones Clínicas, Cali, Colombia; 4Centro de Investigaciones…

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The persistence and stabilization of auxiliary genes in the human skin virome | Virology Journal

Breitbart M, Bonnain C, Malki K, Sawaya NA. Phage puppet masters of the marine microbial realm. Nat Microbiol. 2018;3:754–66. Article  CAS  PubMed  Google Scholar  Suttle CA. Marine viruses—major players in the global ecosystem. Nat Rev Microbiol. 2007;5:801–12. Article  CAS  PubMed  Google Scholar  Breitbart M. Marine viruses: truth or dare. Ann…

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IJMS | Free Full-Text | High-Efficiency CRISPR/Cas9-Mediated Correction of a Homozygous Mutation in Achromatopsia

1. Introduction Achromatopsia (ACHM) is an inherited retinal dystrophy (IRD) affecting approximately 1 in every 30,000 individuals [1,2]. It is an autosomal-recessive disorder associated with a loss of cone photoreceptor function [1,2,3,4]. ACHM usually shows an early onset presenting pendular nystagmus, poor visual acuity, lack of color vision, and photophobia…

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Ethnic Diversity of DPD activity and the DPYD Gene

Plain Language Summary Fluoropyrimidine (FP; 5-FU, capecitabine) is a common chemotherapy used to treat many different cancers, including cancer of the colon and rectum, upper digestive tract, breast and head and neck. Cancer patients who receive FP chemotherapy are at risk of developing severe side effects from their treatment. A…

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Provean for mutations in yeast genome

Provean for mutations in yeast genome 0 Hi everyone, I am currently working on anti-fungal drug resistance mutations on a medically important yeast. I have listed some of the well-known mutations. Then use Provean web application to test whether Provean is able to sort them. I had very promising results…

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PROVEAN input script

PROVEAN input script 1 Hi everyone, I would like to write a python script to extract amino acid substitutions and indels from several protein alignments, and use it as an input for variant effect prediction with PROVEAN. So far I have modified an initial script (C: How to extract polymorphic…

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PROVEAN not working

PROVEAN not working 2 Hello All, I’m having troubles making PROVEAN work. I’m getting this error while trying to run PROVEAN /gpfs01/home/x/NCBI-BLAST/blastdb/ftp.ncbi.nih.gov/blast/db/nr [17:44:08] searching related sequences… [18:45:32] clustering subject sequences… ./provean.sh: line 187: 41879 Segmentation fault $COMMAND Any idea what I’m doing wrong? provean • 652 views • link updated…

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