Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline (Q34033294)

30 July 2017

title

Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline (English)

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30 July 2017

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10

Robert C Green

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30 July 2017

11

Isaac S Kohane

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30 July 2017

In-Hee Lee

1

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30 July 2017

Kyungjoon Lee

2

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30 July 2017

Michael Hsing

3

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30 July 2017

Yongjoon Choe

4

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30 July 2017

Jin-Ho Park

5

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30 July 2017

Shu Hee Kim

6

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30 July 2017

Justin M Bohn

7

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30 July 2017

Matthew B Neu

8

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30 July 2017

Kyu-Baek Hwang

9

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30 July 2017

Sek Won Kong

12

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30 July 2017

publication date

6 March 2014

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30 July 2017

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30 July 2017

volume

35

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30 July 2017

issue

5

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30 July 2017

page(s)

537-547

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Sequencing studies in human genetics: design and interpretation.

30 July 2017

cites work

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder

5 July 2018

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Rare-variant association testing for sequencing data with the sequence kernel association test

5 July 2018

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Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy

5 July 2018

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A probabilistic disease-gene finder for personal genomes.

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

5 July 2018

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5 July 2018

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

5 July 2018

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

5 July 2018

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Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Genetic heterogeneity in human disease

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Exome sequencing identifies the cause of a mendelian disorder

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Fast and accurate short read alignment with Burrows-Wheeler transform

5 July 2018

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A groupwise association test for rare mutations using a weighted sum statistic

5 July 2018

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Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi

5 July 2018

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5 July 2018

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5 July 2018

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Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles

5 July 2018

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The Sequence Ontology: a tool for the unification of genome annotations

5 July 2018

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NCBI Reference Sequence (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

5 July 2018

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Gene indexing: characterization and analysis of NLM's GeneRIFs

5 July 2018

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The Ensembl genome database project

5 July 2018

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The advent of personal genome sequencing

5 July 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22520

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22520

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22520

21 January 2018

Identifiers

DOI

10.1002/HUMU.22520

1 reference

30 July 2017

1 reference

30 July 2017

1 reference