(Q37736129)

22 August 2017

2 references

25 April 2019

19 September 2019

Genetics of neurodegenerative diseases: insights from high-throughput resequencing (English)

1 reference

biomedical investigative technique

22 August 2017

2 references

25 April 2019

19 September 2019

1 reference

19 September 2019

Shoji Tsuji

1

1 reference

PMCID

2875051

22 August 2017

language of work or name

1 reference

22 April 2010

1 reference

PMCID

2875051

22 August 2017

15 April 2010

2 references

25 April 2019

19 September 2019

Human Molecular Genetics

3 references

22 August 2017

25 April 2019

19 September 2019

19

1 reference

22 August 2017

R65-70

1 reference

22 August 2017

R1

1 reference

Creative Commons Attribution-NonCommercial

22 August 2017

2 references

25 April 2019

19 September 2019

on focus list of Wikimedia project

ScienceSource

0 references

cites work

Functional modules, mutational load and human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Complete Khoisan and Bantu genomes from southern Africa

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

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

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Exome sequencing of a multigenerational human pedigree

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Sequencing technologies - the next generation

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Exome sequencing identifies the cause of a mendelian disorder

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Finding the missing heritability of complex diseases

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Targeted capture and massively parallel sequencing of 12 human exomes

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Familial aggregation of amyotrophic lateral sclerosis

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

SNP haplotype mapping in a small ALS family

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Fast and accurate short read alignment with Burrows-Wheeler transform

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Mutations for Gaucher disease confer high susceptibility to Parkinson disease

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

SNP HiTLink: a high-throughput linkage analysis system employing dense SNP data

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Quantification of rare allelic variants from pooled genomic DNA

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

The diploid genome sequence of an Asian individual

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Accurate whole human genome sequencing using reversible terminator chemistry

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

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

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Genetic variation in an individual human exome

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

The complete genome of an individual by massively parallel DNA sequencing

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

SOAP: short oligonucleotide alignment program

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Genome-wide in situ exon capture for selective resequencing

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Direct selection of human genomic loci by microarray hybridization

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Parkinsonism among Gaucher disease carriers

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Finishing the euchromatic sequence of the human genome

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

On the allelic spectrum of human disease

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Are rare variants responsible for susceptibility to complex diseases?

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Occurrence of Parkinson's syndrome in type I Gaucher disease

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Exome sequencing makes medical genomics a reality

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Positional cloning: let's not call it reverse anymore

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Multiplexed resequencing analysis to identify rare variants in pooled DNA with barcode indexing using next-generation sequencer

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Sizing up human height variation.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Microarray-based genomic selection for high-throughput resequencing.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Soap-HT-BLAST: high throughput BLAST based on Web services

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875051

Familial Aggregation of Parkinson's Disease in Iceland

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ162

Amyotrophic lateral sclerosis

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ162

Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20413655

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Exome sequencing takes centre stage in cancer profiling

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20413655

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Variations on a theme: cataloging human DNA sequence variation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20413655

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDQ162

1 reference

22 August 2017

1 reference

22 August 2017

1 reference

PMCID

2875051