Detecting and annotating genetic variations using the HugeSeq pipeline (Q36483425)

14 August 2017

Detecting and annotating genetic variations using the HugeSeq pipeline (English)

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14 August 2017

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14 August 2017

Maeve O'Huallachain

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Rajini Haraksingh

object named as

Rajini Haraksingh

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Mark Bender Gerstein

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Mark B Gerstein

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14 August 2017

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Carlos D Bustamante

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14 August 2017

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Michael Snyder

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14 August 2017

2

Cuiping Pan

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14 August 2017

Hugo Y K Lam

1

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14 August 2017

Michael J Clark

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14 August 2017

Phil Lacroute

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14 August 2017

Rui Chen

5

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14 August 2017

7 March 2012

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14 August 2017

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14 August 2017

30

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14 August 2017

226-229

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14 August 2017

3

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https://scigraph.springernature.com/pub.10.1038/nbt.2134

14 August 2017

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cites work

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720384

The variant call format and VCFtools

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720384

CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720384

Mapping copy number variation by population-scale genome sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720384

A map of human genome variation from population-scale sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720384

Dindel: accurate indel calls from short-read data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720384

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720384

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720384

Clinical assessment incorporating a personal genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720384

BEDTools: a flexible suite of utilities for comparing genomic features

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720384

Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720384

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720384

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720384

The Sequence Alignment/Map format and SAMtools

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720384

Fast and accurate short read alignment with Burrows-Wheeler transform

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720384

Predicting the effects of amino acid substitutions on protein function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720384

Human non-synonymous SNPs: server and survey

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4720384

30 September 2017

Identifiers

DOI

10.1038/NBT.2134

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release_yfflsuxklbdshlzyf2ymwto7ja

14 August 2017

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Fatcat

https://api.fatcat.wiki/v0/release/yfflsuxklbdshlzyf2ymwto7ja

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

14 August 2017

1 reference