A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders (Q36533178)

14 August 2017

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders (English)

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14 August 2017

23

Charles M Strom

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14 August 2017

Izabela Karbassi

1

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14 August 2017

Glenn A Maston

2

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14 August 2017

Angela Love

3

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14 August 2017

Christina DiVincenzo

4

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14 August 2017

Corey D Braastad

5

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14 August 2017

Christopher D Elzinga

6

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14 August 2017

Alison R Bright

7

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14 August 2017

Domenic Previte

8

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14 August 2017

Ke Zhang

9

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14 August 2017

Charles M Rowland

10

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14 August 2017

Michele McCarthy

11

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14 August 2017

Jennifer L Lapierre

12

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14 August 2017

Felicita Dubois

13

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14 August 2017

Katelyn A Medeiros

14

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14 August 2017

Sat Dev Batish

15

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14 August 2017

Jeffrey Jones

16

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14 August 2017

Khalida Liaquat

17

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14 August 2017

Carol A Hoffman

18

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14 August 2017

Malgorzata Jaremko

19

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14 August 2017

Zhenyuan Wang

20

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14 August 2017

Weimin Sun

21

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14 August 2017

Arlene Buller-Burckle

22

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14 August 2017

Steven B Keiles

24

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14 August 2017

Joseph J Higgins

25

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14 August 2017

15 October 2015

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14 August 2017

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37

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1

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14 August 2017

127-134

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describes a project that uses

14 August 2017

SQL

1 reference

26 June 2022

https://europepmc.org/article/PMC/PMC4737317

inferred from PubMed Central ID database lookup

cites work

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

Guidelines for investigating causality of sequence variants in human disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

A general framework for estimating the relative pathogenicity of human genetic variants

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

A systematic approach to assessing the clinical significance of genetic variants.

30 September 2017

1 reference

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Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data

30 September 2017

1 reference

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Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

30 September 2017

1 reference

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Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

Carrier testing for severe childhood recessive diseases by next-generation sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

A method and server for predicting damaging missense mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

IRES-induced conformational changes in the ribosome and the mechanism of translation initiation by internal ribosomal entry

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

Strategies for identifying RNA splicing regulatory motifs and predicting alternative splicing events

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

GeneSplicer: a new computational method for splice site prediction

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

Statistical features of human exons and their flanking regions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

Estimation of allele frequencies at isoloci

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

Hypomorphic NOTCH3 alleles do not cause CADASIL in humans

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

Improved splice site detection in Genie

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

Clinically relevant variants - identifying, collecting, interpreting, and disseminating: the 2013 annual scientific meeting of the Human Genome Variation Society

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

A stepwise likelihood ratio test procedure for rare variant selection in case-control studies.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

Guidelines for reporting and using prediction tools for genetic variation analysis

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory's experience

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4737317

Integrated analysis of unclassified variants in mismatch repair genes

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26467025

12 December 2020

inferred from PubMed ID database lookup

Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26467025

12 December 2020

inferred from PubMed ID database lookup

Payment for cancer biomarker testing

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26467025

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1002/HUMU.22918

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

26467025

1 reference