(Q21183963)

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Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

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scholarly article

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Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement (English)

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whole genome sequencing

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based on heuristic

2

object named as

Cecilia Kim

author given names

Cecilia

author last names

Kim

1 reference

Dimensions Publication ID

16 August 2022

Hakon Hakonarson

12

object named as

Hakon Hakonarson

author given names

Hakon

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Hakonarson

1 reference

Dimensions Publication ID

16 August 2022

1

object named as

Kai Wang

author given names

Kai

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Wang

1 reference

Dimensions Publication ID

16 August 2022

8

author given names

Kelly

author last names

Thomas

object named as

Kelly Thomas

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Dimensions Publication ID

16 August 2022

10

author given names

Gholson J

author last names

Lyon

object named as

Gholson J Lyon

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16 August 2022

5

author given names

Elina

author last names

Toskala

object named as

Elina Toskala

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16 August 2022

Frederick C F Otieno

6

author given names

Frederick G

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Otieno

object named as

Frederick G Otieno

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16 August 2022

7

author given names

Cuiping

author last names

Hou

object named as

Cuiping Hou

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16 August 2022

11

author given names

Ryan

author last names

Golhar

object named as

Ryan Golhar

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16 August 2022

author name string

Jonathan Bradfield

3

author given names

Jonathan

author last names

Bradfield

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Dimensions Publication ID

16 August 2022

Yunfei Guo

4

author given names

Yunfei

author last names

Guo

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Dimensions Publication ID

16 August 2022

Christopher Cardinale

9

author given names

Christopher

author last names

Cardinale

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Dimensions Publication ID

16 August 2022

language of work or name

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publication date

2013

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Genome Medicine

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5

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7

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67

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Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

1 reference

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A map of human genome variation from population-scale sequencing

1 reference

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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

1 reference

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Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

1 reference

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Exome sequencing identifies the cause of a mendelian disorder

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Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

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TopHat: discovering splice junctions with RNA-Seq

1 reference

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Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

1 reference

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Identification of the ubiquitin-protein ligase that recognizes oxidized IRP2

1 reference

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1 reference

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19 March 2017

Fast gapped-read alignment with Bowtie 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971341

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971341

19 March 2017

The Sequence Alignment/Map format and SAMtools

1 reference

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1 reference

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1 reference

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19 March 2017

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

1 reference

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19 March 2017

SOAP2: an improved ultrafast tool for short read alignment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971341

19 March 2017

SOAP: short oligonucleotide alignment program

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971341

19 March 2017

Pairwise end sequencing: a unified approach to genomic mapping and sequencing

1 reference

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19 March 2017

Summarizing and correcting the GC content bias in high-throughput sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971341

19 March 2017

Integrative genomics viewer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971341

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971341

7 April 2017

A systematic survey of loss-of-function variants in human protein-coding genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971341

7 April 2017

Exome sequencing as a tool for Mendelian disease gene discovery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971341

7 April 2017

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971341

7 April 2017

Challenges in whole exome sequencing: an example from hereditary deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971341

12 September 2017

Exome sequencing: dual role as a discovery and diagnostic tool

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3971341

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The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process

1 reference

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Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications

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Revisiting Mendelian disorders through exome sequencing

1 reference

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VarScan: variant detection in massively parallel sequencing of individual and pooled samples

1 reference

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1 reference

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12 September 2017

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Consolidated OpenCitations Corpus – April 2017

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OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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PubMed publication ID

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Consolidated OpenCitations Corpus – April 2017

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