Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care. - Wikidata - wikimedia - TriplyDB

Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.

Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.

http://www.wikidata.org/entity/Q37257098

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Next generation sequencing of the nidus of early (adenosquamous proliferation rich) radial sclerosing lesions of the breast reveals evidence for a neoplastic precursor lesion."Squirrel" Primer-Based PCR Assay for Direct and Targeted Sanger Sequencing of Short Genomic Segments.Non-reproducible sequence artifacts in FFPE tissue: an experience report.Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants.Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

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Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.

http://www.wikidata.org/entity/Q37257098

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 10 May 2016

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Concordance between whole-exom ...... implications for patient care.

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Concordance between whole-exom ...... implications for patient care.

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type

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Concordance between whole-exom ...... implications for patient care.

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Concordance between whole-exom ...... implications for patient care.

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Concordance between whole-exom ...... implications for patient care.

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Concordance between whole-exom ...... implications for patient care.

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Molecular genetics & genomic medicine

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Alison Hamilton

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Care4Rare Canada Consortium

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David A Dyment

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FORGE Canada Consortium

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Kristin Kernohan

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Martine Tétreault

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Michael T Geraghty

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Ruobing Zou

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Taila Hartley

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P2860

dbSNP: the NCBI database of genetic variation

Three-stage quality control strategies for DNA re-sequencing data

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

The Sequence Alignment/Map format and SAMtools

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

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

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10.1002/MGG3.223

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