BOL: Related items

Should you get sequenced? Not all bad genes predict disease

Rahul Agarwal — Thu, 29 Aug 2013 15:10:53 -0500

“What we really don’t know yet is whether the predictive aspects of the genome are going to turn out to be beneficial or potentially harmful”

“As we roll out genomic medicine we are fighting against this society-wide misconception that having the bad gene means you’re going to get the disease. That’s only true in a very few cases.”

Source:Today Health

Address of the bookmark: http://www.today.com/health/should-you-get-sequenced-not-all-bad-genes-predict-disease-8C11017154

Detail annotation of genes !

Jit — Fri, 11 Jan 2019 05:23:33 -0600

gene_info recalculated daily
---------------------------------------------------------------------------
tab-delimited
one line per GeneID
Column header line is the first line in the file.
Note: subsets of gene_info are available in the DATA/GENE_INFO
directory (described later)
---------------------------------------------------------------------------

tax_id:
the unique identifier provided by NCBI Taxonomy
for the species or strain/isolate

GeneID:
the unique identifier for a gene
ASN1: geneid

Symbol:
the default symbol for the gene
ASN1: gene->locus

LocusTag:
the LocusTag value
ASN1: gene->locus-tag

Synonyms:
bar-delimited set of unofficial symbols for the gene

dbXrefs:
bar-delimited set of identifiers in other databases
for this gene. The unit of the set is database:value.
Note that HGNC and MGI include 'HGNC' and 'MGI', respectively,
in the value part of their identifier. Consequently,
dbXrefs for these databases will appear like:
HGNC:HGNC:1100
This would be interpreted as database='HGNC', value='HGNC:1100'
Example for MGI:
MGI:MGI:104537
This would be interpreted as database='MGI', value='MGI:104537'

chromosome:
the chromosome on which this gene is placed.
for mitochondrial genomes, the value 'MT' is used.

map location:
the map location for this gene

description:
a descriptive name for this gene

type of gene:
the type assigned to the gene according to the list of options
provided in https://www.ncbi.nlm.nih.gov/IEB/ToolBox/CPP_DOC/lxr/source/src/objects/entrezgene/entrezgene.asn

Symbol from nomenclature authority:
when not '-', indicates that this symbol is from a
a nomenclature authority

Full name from nomenclature authority:
when not '-', indicates that this full name is from a
a nomenclature authority

Nomenclature status:
when not '-', indicates the status of the name from the
nomenclature authority (O for official, I for interim)

Other designations:
pipe-delimited set of some alternate descriptions that
have been assigned to a GeneID
'-' indicates none is being reported.

Modification date:
the last date a gene record was updated, in YYYYMMDD format

Feature type:
pipe-delimited set of annotated features and their classes or
controlled vocabularies, displayed as feature_type:feature_class
or feature_type:controlled_vocabulary, when appropriate; derived
from select feature annotations on RefSeq(s) associated with the
GeneID

Address of the bookmark: ftp://ftp.ncbi.nih.gov/gene/DATA/GENE_INFO/

DEG 5.0: a database of essential genes in both prokaryotes and eukaryotes

Rahul Nayak — Tue, 30 Mar 2021 11:47:28 -0500

Essential genes are those indispensable for the survival of an organism, and their functions are therefore considered a foundation of life. Determination of a minimal gene set needed to sustain a life form, a fundamental question in biology, plays a key role in the emerging field, synthetic biology.

DEG is freely available at the website http://tubic.tju.edu.cn/deg or http://www.essentialgene.org.

Address of the bookmark: http://www.essentialgene.org/

Orthoflow: workflow for phylogenetic inference of genome-scale datasets of protein-coding genes

LEGE — Wed, 21 Feb 2024 06:13:08 -0600

Orthoflow is a workflow for phylogenetic inference of genome-scale datasets of protein-coding genes. Our goal was to make it straightforward to work from a combination of input sources including annotated contigs in Genbank format and FASTA files containing CDSs. It uses several state of the art inference methods for orthology inference, either based on HMM profiles or de novo inference of orthogroups. Through the use of OrthoSNAP, many additional ortholog alignments can be generated from multi-copy gene families. For phylogenetic inference, users can choose a supermatrix approach and/or gene tree inference followed by supertree reconstruction. Users can specify a range of alignment filtering settings to retain high-quality alignments for phylogenetic inference. The workflow produces a detailed report that, in addition to the phylogenetic results, includes a range of diagnostics to verify the quality of the results.

Address of the bookmark: https://github.com/rbturnbull/orthoflow

33rd Annual Convention of Indian Association for Cancer Research from 13th to 15th February 2014

Tue, 27 Aug 2013 10:37:08 -0500

RGCB is organizing the 33rd Annual Convention of Indian Association for Cancer Research from 13th to 15th February 2014 with the theme "Discovery, Innovation and Translation in Cancer Research"

Kindly log on to conference website http://rgcb.res.in/IACR2014 for further details and timely updates and registration. We shall truly appreciate if the same be circulated among your friends, scholars and students encouraging them to participate in the meet.

http://210.212.237.38/iacrconference/

BioGPS

Anjana — Mon, 23 May 2016 03:15:46 -0500

A free extensible and customizable gene annotation portal, a complete resource for learning about gene and protein function.

http://biogps.org/#goto=welcome

Address of the bookmark: http://biogps.org/#goto=welcome

GeneBreak: a tool to systematically identify genes recurrently affected by the genomic location of chromosomal CNA-associated breaks by a genome-wide approach

Jit — Sat, 01 Oct 2016 15:15:29 -0500

Development of cancer is driven by somatic alterations, including numerical and structural chromosomal aberrations. Currently, several computational methods are available and are widely applied to detect numerical copy number aberrations (CNAs) of chromosomal segments in tumor genomes. However, there is lack of computational methods that systematically detect structural chromosomal aberrations by virtue of the genomic location of CNA-associated chromosomal breaks and identify genes that appear non-randomly affected by chromosomal breakpoints across (large) series of tumor samples. ‘GeneBreak’ is developed to systematically identify genes recurrently affected by the genomic location of chromosomal CNA-associated breaks by a genome-wide approach, which can be applied to DNA copy number data obtained by array-Comparative Genomic Hybridization (CGH) or by (low-pass) whole genome sequencing (WGS). First, ‘GeneBreak’ collects the genomic locations of chromosomal CNA-associated breaks that were previously pinpointed by the segmentation algorithm that was applied to obtain CNA profiles. Next, a tailored annotation approach for breakpoint-to-gene mapping is implemented. Finally, dedicated cohort-based statistics is incorporated with correction for covariates that influence the probability to be a breakpoint gene. In addition, multiple testing correction is integrated to reveal recurrent breakpoint events. This easy-to-use algorithm, ‘GeneBreak’, is implemented in R (www.cran.r-project.org) and is available from Bioconductor (www.bioconductor.org/packages/release/bioc/html/GeneBreak.html).

Address of the bookmark: http://www.bioconductor.org/packages/release/bioc/html/GeneBreak.html

Yannick Wurm Lab

Thu, 07 Aug 2014 18:02:37 -0500

Evolutionary genomics of social insects. Extensive theoretical work has explained how and why complex societies evolve. However, only little is known about the genes and molecular mechanisms responsible for social phenotypes. We have been identifying genes and mechanisms involved in the evolution of insect societies using modern genomics tools (Illumina, RNAseq, RADseq...). For example we recently:

1. sequenced and analyzed the genome of the invasive red fire ant Solenopsis invicta (PNAS 2011)

2. discovered that a fundamental social trait in this species (how many queens are accepted in the colony) is determined by variants of a social chromosome (Nature 2013).

3. described the gene expression changes that occur in a virgin queen when she is given the opportunity of replacing her mother (Mol Ecol 2010).

Homepage: http://yannick.poulet.org/

dipSPAdes: Assembler for Highly Polymorphic Diploid Genomes.

Jit — Wed, 20 Dec 2017 18:35:16 -0600

While the number of sequenced diploid genomes have been steadily increasing in the last few years, assembly of highly polymorphic (HP) diploid genomes remains challenging. As a result, there is a shortage of tools for assembling HP genomes from the next generation sequencing (NGS) data. The initial approaches to assembling HP genomes were proposed in the pre-NGS era and are not well suited for NGS projects. To address this limitation, we developed the first de Bruijn graph assembler, dipSPAdes, for HP genomes that significantly improves on the state-of-the-art assemblers for HP diploid genomes.

Address of the bookmark: https://www.ncbi.nlm.nih.gov/pubmed/25734602

598 Indian Genomes from 55 ethnic groups Sequenced

Jit — Fri, 13 Dec 2019 20:31:42 -0600

This study reports sequence from 1,267 individuals that includes 598 individuals representing 55 ethnic groups that span the major language groups across India.

Importantly, this study found many large population groups from India in which individuals were more related to each other by descent. These groups are similar to the Finnish population group where many disease gene discoveries were made. The Finnish-equivalent Indian groups are going to be a great resource for disease gene discovery and they will aid in target identification, drug development and disease management.

This study has identified many genetic variants that are specific to Indian population groups that were previously not known. Some of these are common variants in the Indian groups, but when first identified by previous studies from India involving smaller sample size, they were thought to be disease causing (for example in diabetes) as they were not represented in the Eurocentric variant database.

Several variants that pre-dispose individuals to higher cancer risk were identified in this study. Once this part of the work is expanded, the data from this can be used to screen individuals to understand the disease risk and provide appropriate monitoring and proactive treatment. Similarly, variants linked to increase in adverse effect in individuals for certain drugs were found. Understanding this will allow doctors to provide alternate safer drugs to such patients.

More at https://www.nature.com/articles/s41586-019-1793-z

https://www.nature.com/nature/volumes/576/issues/7785