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Predict the Functional Consequences of Coding and Non-Coding Variants

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fathmm - Home | fathmm.biocompute.org.uk Reviews
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Predict the Functional Consequences of Coding and Non-Coding Variants
<META>
KEYWORDS
1 Missense Mutation
2 Functional Effects
3 Inherited Disease Mutation
4 Cancer Associated Mutation
5 Amino Acid Substitutions
6 Hidden Markov Models
7 HMMs
8 Single Nucleotide Polymorphisms
9 SNPs
10 Non Synonymous Mutation
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fathmm,coding variants,inherited disease,cancer,disease specific,non coding variants
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fathmm - Home | fathmm.biocompute.org.uk Reviews

https://fathmm.biocompute.org.uk

Predict the Functional Consequences of Coding and Non-Coding Variants

LINKS TO THIS WEBSITE

cancer.sanger.ac.uk cancer.sanger.ac.uk

COSMIC: COSMIC Data Analyses

http://cancer.sanger.ac.uk/cosmic/analyses

Exclusion of hypermutated samples and SNP filtering:. Cancer genomes can be a very noisy source of data. It is estimated that an individual's tumour is caused by 5-10 driver mutations, but genome resequencing regularly reveals over 10,000 somatic mutations per tumour, with much larger numbers not unusual in hypermutated samples (we've seen samples with over 100,000 mutations each, the greatest being 178,763). More information about FATHMM-MKL is available here. The new method improves on the older versio...

rvs.u.hpc.mssm.edu rvs.u.hpc.mssm.edu

RVS — the Reference Variant Store

https://rvs.u.hpc.mssm.edu/about.php

Information provided by RVS. RVS currently contains more than 520 million variants, obtained from these studies:. 1000 Genomes Phases 1 and 3 (1092 and 2535 samples, respectively; WGS). ESP6500 (6503 samples, WES). Scripps Wellderly (534, WGS). UK10K (7320: 4888 WES and 2432 WGS). GERA ( 78,000, genotyping). TCGA (4415, mixed WES and WGS). Mt Sinai BioBank (11,210, genotyping; visible to Mount Sinai users only). And these sample-independent resources and annotation databases:. Information provided by RVS.

bioinformatics.bris.ac.uk bioinformatics.bris.ac.uk

Software - Computational Genomics Group

http://www.bioinformatics.bris.ac.uk/software.html

The Mogrify resource predicts how to trans-differentiation from any human cell type to any other human cell typeby perturbing the transcriptional network. Mogrify includes all cell types from the FANTOM5. Database contains assignments of protein domains of known structures to all completely sequenced genomes. The library of hidden Markov models and the software required to run the SUPERFAMILY assignment procedure is available from the downloads page. There is a very low traffic mailing list. A community ...

grch37-cancer.sanger.ac.uk grch37-cancer.sanger.ac.uk

COSMIC: COSMIC Datasheets

http://grch37-cancer.sanger.ac.uk/cosmic/datasheets

Full description of new v78 content. New fully curated cancer genes;. HIF1A - 1,782 samples, 196 mutations, 56 papers. MTOR - 3,239 samples, 634 mutations, 132 papers. PTPN13 - 1,761 samples, 429 mutations, 85 papers. Curated Gene Fusions;. ETV6-RUNX1 - 2,276 samples, 357 mutations, 37 papers. Cancer Gene Census;. 9 new genes added, 1 removed. Drug Resistance; 1 new gene (FLT3) and 2 new drugs (Quizartinib and Sorafenib), 76 new unique resistance mutations curated. ICGC release 21; May 16. Hypoxia induci...

grch37-cancer.sanger.ac.uk grch37-cancer.sanger.ac.uk

COSMIC: COSMIC - DATA DOWNLOADS

http://grch37-cancer.sanger.ac.uk/cosmic/download

Data Downloads ( release v78, 5th September 2016 ). The following section contains descriptions and locations of data files in the SFTP site. From the current COSMIC release v78. As part of COSMIC's growth and development plan, we have implemented a new licensing strategy and we encourage users to be aware of the terms and conditions. Please contact cosmic-translation@sanger.ac.uk. Note: If you need any help downloading files, please click here. Primary tissue specified in the publication. A tab separate...

grch37-cancer.sanger.ac.uk grch37-cancer.sanger.ac.uk

COSMIC: COSMIC Data Analyses

http://grch37-cancer.sanger.ac.uk/cosmic/analyses

Exclusion of hypermutated samples and SNP filtering:. Cancer genomes can be a very noisy source of data. It is estimated that an individual's tumour is caused by 5-10 driver mutations, but genome resequencing regularly reveals over 10,000 somatic mutations per tumour, with much larger numbers not unusual in hypermutated samples (we've seen samples with over 100,000 mutations each, the greatest being 178,763). More information about FATHMM-MKL is available here. The new method improves on the older versio...

mesuturkey.wordpress.com mesuturkey.wordpress.com

God of Science | Just an ordinary blog by an ordinary bloke

https://mesuturkey.wordpress.com/2013/12/01/god-of-science

Just an ordinary blog by an ordinary bloke. By A Mesut Erzurumluoğlu. Laquo; Digital Security. Introduction: Religion v Evolution. One could argue some these TV channels are being controlled by atheists and/or anti-theists but this is not within the scope of this post; that could be a subject for another one…. And report it accurately…. Why did he create evil and the Devil? If God is just, why does a child molester go to Heaven just because he believes? These are questions that have always troubled Chris...

mutdb.org mutdb.org

Mooney Lab - MutDB gene browse T1*-TY*

http://www.mutdb.org/genes/browse/letter:T/start:1/end:Z

Click to read more." target=" blank". Click to read more." target=" blank" Mooney Lab Home. Genes T1* - TY*. Trace amine-associated receptor 1 [Homo sapiens]. Trace amine-associated receptor 2 isoform 1. Trace amine-associated receptor 2 isoform 2. Trace amine-associated receptor 5 [Homo sapiens]. Trace amine-associated receptor 6 [Homo sapiens]. Trace amine-associated receptor 8 [Homo sapiens]. Trace amine-associated receptor 9. TGF-beta-activated kinase 1 and MAP3K7-binding pro. Transforming acidic coi...

mutdb.org mutdb.org

Mooney Lab - MutDB gene browse K1*-KY*

http://www.mutdb.org/genes/browse/letter:K/start:1/end:Z

Click to read more." target=" blank". Click to read more." target=" blank" Mooney Lab Home. Genes K1* - KY*. KN motif and ankyrin repeat domain-containing prot. KN motif and ankyrin repeat domain-containing prot. KN motif and ankyrin repeat domain-containing prot. KN motif and ankyrin repeat domain-containing prot. KN motif and ankyrin repeat domain-containing prot. KN motif and ankyrin repeat domain-containing prot. KAT8 regulatory NSL complex subunit 1 isoform 2. KAT8 regulatory NSL complex subunit 2.

mutdb.org mutdb.org

Mooney Lab - MutDB gene browse S1*-SY*

http://www.mutdb.org/genes/browse/letter:S/start:1/end:Z

Click to read more." target=" blank". Click to read more." target=" blank" Mooney Lab Home. Genes S1* - SY*. Protein S100-A5 [Homo sapiens]. Protein S100-A7-like 2 [Homo sapiens]. S100P-binding protein isoform b [Homo sapiens]. S100P-binding protein isoform a. Protein S100-Z [Homo sapiens]. Sphingosine 1-phosphate receptor 1. Sphingosine 1-phosphate receptor 2 [Homo sapiens]. Sphingosine 1-phosphate receptor 3. Sphingosine 1-phosphate receptor 4 precursor [Homo. Sphingosine 1-phosphate receptor 5.

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fathmm - Home

Functional Analysis through Hidden Markov Models (v2.3). A high-throughput web-server capable of predicting the functional consequences of both coding variants, i.e. non-synonymous single nucleotide variants (nsSNVs), and non-coding variants. Use this option to return predictions capable of discriminating between disease-causing mutations and neutral polymorphisms. Use this option to return predictions capable of distinguishing between cancer-promoting/driver mutations and other germline polymorphisms.

fathmos.deviantart.com fathmos.deviantart.com

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