Secondary findings and carrier test frequencies in a large multiethnic sample. - Wikidata - wikimedia - TriplyDB

Secondary findings and carrier test frequencies in a large multiethnic sample.

Secondary findings and carrier test frequencies in a large multiethnic sample.

http://www.wikidata.org/entity/Q35865955

about

Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium Assessing the Costs and Cost-Effectiveness of Genomic Sequencing The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction.PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.Findings of a 1303 Korean whole-exome sequencing study.Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing.Clinical genomics: from a truly personal genome viewpoint.Actionable Genes, Core Databases, and Locus-Specific Databases.Identification of novel candidate disease genes from de novo exonic copy number variants.Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.Towards precision nephrology: the opportunities and challenges of genomic medicine.Impacts of incorporating personal genome sequencing into graduate genomics education: a longitudinal study over three course years.A systematic analysis of online marketing materials used by providers of expanded carrier screening.Clinical providers' experiences with returning results from genomic sequencing: an interview study.The BabySeq project: implementing genomic sequencing in newborns Genomic sequencing identifies secondary findings in a cohort of parent study participants Genetics in mainstream medicine: Finally within grasp to influence healthcare globally

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P2860

Secondary findings and carrier test frequencies in a large multiethnic sample.

http://www.wikidata.org/entity/Q35865955

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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name

Secondary findings and carrier test frequencies in a large multiethnic sample.

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Secondary findings and carrier test frequencies in a large multiethnic sample.

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Secondary findings and carrier test frequencies in a large multiethnic sample.

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Secondary findings and carrier test frequencies in a large multiethnic sample.

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Secondary findings and carrier test frequencies in a large multiethnic sample.

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Secondary findings and carrier test frequencies in a large multiethnic sample.

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Genome Medicine

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Secondary findings and carrier test frequencies in a large multiethnic sample.

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Donna M Muzny

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James R Lupski

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Jeffrey Staples

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Matthew N Bainbridge

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Richard A Gibbs

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Samantha Penney

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Shalini N Jhangiani

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Wojciech Wiszniewski

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P2860

An integrated map of genetic variation from 1,092 human genomes

Database resources of the National Center for Biotechnology Information

Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine.

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

Principal components analysis corrects for stratification in genome-wide association studies

The Atherosclerosis Risk in Communities (ARIC) Study: design and objectives. The ARIC investigators

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Proportionally more deleterious genetic variation in European than in African populations.

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results

Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening

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Eric Boerwinkle

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Alanna Morrison

Jennifer Elizabeth Below

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