Phased whole-genome genetic risk in a family quartet using a major allele reference sequence - Test2 - elhamkhani - TriplyDB

Phased whole-genome genetic risk in a family quartet using a major allele reference sequence

Phased whole-genome genetic risk in a family quartet using a major allele reference sequence

http://www.wikidata.org/entity/Q21144940

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Analysis of variation at transcription factor binding sites in Drosophila and humans Medical implications of technical accuracy in genome sequencing Personalized medicine: hope or hype?Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium Exploring predisposition and treatment response--the promise of genomics Promise of personalized omics to precision medicine Personalized preventive medicine: genetics and the response to regular exercise in preventive interventions A public resource facilitating clinical use of genomes De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP Whole-exome sequencing reveals TopBP1 as a novel gene in idiopathic pulmonary arterial hypertension Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data Determination of haplotypes at structurally complex regions using emulsion haplotype fusion PCR Limitations of the human reference genome for personalized genomics Bioinformatics for personal genome interpretation High accuracy mutation detection in leukemia on a selected panel of cancer genes Challenges in the pharmacogenomic annotation of whole genomes.Systems biology: personalized medicine for the future?Clinical interpretation and implications of whole-genome sequencing.Translating personalized medicine using new genetic technologies in clinical practice: the ethical issues Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes.Large-scale compression of genomic sequence databases with the Burrows-Wheeler transform.From genetic counseling to "genomic counseling".In depth comparison of an individual's DNA and its lymphoblastoid cell line using whole genome sequencing.Disease risk factors identified through shared genetic architecture and electronic medical records Whole-genome haplotyping approaches and genomic medicine.Complete genome phasing of family quartet by combination of genetic, physical and population-based phasing analysis Personal genomes, quantitative dynamic omics and personalized medicine One Size Doesn't Fit All - RefEditor: Building Personalized Diploid Reference Genome to Improve Read Mapping and Genotype Calling in Next Generation Sequencing Studies.DNA sequencing: clinical applications of new DNA sequencing technologies.Bioinformatics and variability in drug response: a protein structural perspective.Human genomic disease variants: a neutral evolutionary explanation.Neonatal Informatics: Transforming Neonatal Care Through Translational Bioinformatics.Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period Genotyping and genomic profiling of non-small-cell lung cancer: implications for current and future therapies.The Qatar genome: a population-specific tool for precision medicine in the Middle East Human genetic variation database, a reference database of genetic variations in the Japanese population.MathIOmica: An Integrative Platform for Dynamic Omics An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes.A clinical approach to inherited hypertrophy: the use of family history in diagnosis, risk assessment, and management.

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Phased whole-genome genetic risk in a family quartet using a major allele reference sequence

http://www.wikidata.org/entity/Q21144940

description

2011 nî lūn-bûn

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2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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JOURNAL.PGEN.1002280

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Aleksandra Pavlovic

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Alexander W Zaranek

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Anne West

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Caroline F Thorn

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Colleen Caleshu

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Euan A Ashley

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Frederick E Dewey

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Jake K Byrnes

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Joan M Hebert

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Joel T Dudley

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P2860

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

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

Evolutionary Rate at the Molecular Level

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

Clinical assessment incorporating a personal genome

A map of human genome variation from population-scale sequencing

Prdm9 controls activation of mammalian recombination hotspots

Fast and accurate short read alignment with Burrows-Wheeler transform

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

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

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e1002280

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10.1371/JOURNAL.PGEN.1002280

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9

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7

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Carlos D. Bustamante

Michelle Whirl-Carrillo

George M. Church

Emidio Capriotti

Konrad J. Karczewski

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2011-09-01T00:00:00Z

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51659175

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21935354

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3174201

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