Accurate de novo and transmitted indel detection in exome-capture data using microassembly (Q30843128)

11 November 2017

Accurate de novo and transmitted indel detection in exome-capture data using microassembly (English)

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11 November 2017

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PubMed publication ID

27 June 2017

Michael Wigler

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11 November 2017

Giuseppe Narzisi

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11 November 2017

Jason A O'Rawe

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11 November 2017

Ivan Iossifov

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11 November 2017

Han Fang

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11 November 2017

Yoon-Ha Lee

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11 November 2017

Zihua Wang

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11 November 2017

Yiyang Wu

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11 November 2017

Gholson J Lyon

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11 November 2017

17 August 2014

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11 November 2017

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11 November 2017

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11 November 2017

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11 November 2017

1033-1036

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Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

11 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

TIGRA: a targeted iterative graph routing assembler for breakpoint assembly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

Sequence assembly demystified

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

SOAPindel: efficient identification of indels from short paired reads

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

Exploring single-sample SNP and INDEL calling with whole-genome de novo assembly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

De Novo Gene Disruptions in Children on the Autistic Spectrum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

lobSTR: A short tandem repeat profiler for personal genomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

Patterns and rates of exonic de novo mutations in autism spectrum disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

Fast gapped-read alignment with Bowtie 2

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

De novo assembly and genotyping of variants using colored de Bruijn graphs

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

Detection of structural variants and indels within exome data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

Dindel: accurate indel calls from short-read data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

Small insertions and deletions (INDELs) in human genomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

Loss-of-function variants in the genomes of healthy humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

Insertion and deletion processes in recent human history

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

Fast and accurate long-read alignment with Burrows-Wheeler transform

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

The Sequence Alignment/Map format and SAMtools

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

Mapping short DNA sequencing reads and calling variants using mapping quality scores

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

Repeat instability: mechanisms of dynamic mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

Identification of common molecular subsequences

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180789

Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNMETH.3069

Scoring-and-unfolding trimmed tree assembler: concepts, constructs and comparisons

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNMETH.3069

21 January 2018

Identifiers

DOI

10.1038/NMETH.3069

1 reference

Dimensions Publication ID

11 November 2017

0 references

1 reference

11 November 2017

PubMed publication ID

25128977

1 reference