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Deborah I Ritter

Showing results (31-40 of 39) with videos related to

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BMC Genomics|April 19, 2015
Assessing structural variation in a personal genome-towards a human reference diploid genomeAdam C English, William J Salerno, Oliver A Hampton, et al.
Genome Medicine|January 18, 2022
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelinesChristine G Preston, Matt W Wright, Rao Madhavrao, et al.
Nature Genetics|April 5, 2020
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancerAlex H Wagner, Brian Walsh, Georgia Mayfield, et al.
The Journal of Clinical Investigation|July 19, 2016
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung diseaseSaskia N van der Crabben, Marije P Hennus, Grant A McGregor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 1, 2022
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)Peter Horak, Malachi Griffith, Arpad M Danos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 5, 2022
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)Peter Horak, Malachi Griffith, Arpad M Danos, et al.
Cell|April 7, 2018
Pathogenic Germline Variants in 10,389 Adult CancersKuan-Lin Huang, R Jay Mashl, Yige Wu, et al.
Nature Cancer|May 27, 2022
A community approach to the cancer-variant-interpretation bottleneckKilannin Krysiak, Arpad M Danos, Susanna Kiwala, et al.
Nucleic Acids Research|November 14, 2022
CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebaseKilannin Krysiak, Arpad M Danos, Jason Saliba, et al.
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Showing results (31-40 of 39) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 39 results.
BMC Genomics|April 19, 2015
Assessing structural variation in a personal genome-towards a human reference diploid genomeAdam C English, William J Salerno, Oliver A Hampton, et al.
Genome Medicine|January 18, 2022
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelinesChristine G Preston, Matt W Wright, Rao Madhavrao, et al.
Nature Genetics|April 5, 2020
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancerAlex H Wagner, Brian Walsh, Georgia Mayfield, et al.
The Journal of Clinical Investigation|July 19, 2016
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung diseaseSaskia N van der Crabben, Marije P Hennus, Grant A McGregor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 1, 2022
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)Peter Horak, Malachi Griffith, Arpad M Danos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 5, 2022
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)Peter Horak, Malachi Griffith, Arpad M Danos, et al.
Cell|April 7, 2018
Pathogenic Germline Variants in 10,389 Adult CancersKuan-Lin Huang, R Jay Mashl, Yige Wu, et al.
Nature Cancer|May 27, 2022
A community approach to the cancer-variant-interpretation bottleneckKilannin Krysiak, Arpad M Danos, Susanna Kiwala, et al.
Nucleic Acids Research|November 14, 2022
CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebaseKilannin Krysiak, Arpad M Danos, Jason Saliba, et al.
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