Additional file 15: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Additional file 1: of Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family

Na Shen (110593)
Ting Wang (16292)
Delei Li (3370511)
Aiguo Liu (129871)
Yanjun Lu (482204)

February 2019

Supplementary Materials and Tables. (a) The process of whole-exome sequencing (WES) analysis. (b) Ta...

Additional file 3: of Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness

Mun Chang (3471368)
Chung Lee (203278)
Jin Han (9149)
Min Kim (218786)
Hye-Rim Park (4890325)
Nayoung Kim (67514)
Woong-Yang Park (207980)
Doo Oh (4890328)
Byung Choi (3471371)

February 2018

Table S3. Exome sequencing statistics. The table lists information of human genome reference (v19), ...

Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.

Morag A Lewis
Jennifer Schulte
Lois Matthews
Kenneth I Vaden
Claire J Steves
Frances M K Williams
Bradley A Schulte
Judy R Dubno
Karen P Steel

November 2023

Adult-onset progressive hearing loss is a common, complex disease with a strong genetic component. A...

Additional file 13: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Table S9. giving details of genes with identical variants found in more than one person. (DOCX 16 kb

Additional file 12: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Table S8. giving details of the single very rare variants in known deafness genes found in multiple ...

Additional file 11: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Table S7. listing individuals with more than one very rare mutation in the same gene. (DOCX 20 kb

Additional file 10: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Table S6. listing individuals homozygous for very rare variants in any gene. (DOCX 15 kb

Additional file 7: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Table S3. listing genes reported to underlie deafness in humans and/or mice. (XLS 45 kb

Additional file 4: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Table S1. which lists the software prediction tools used to call and annotate variants, with relevan...

Additional file 5: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Figure S4. and legend detailing counts at each filtering step for common variant analysis. (PDF 259 ...

Additional file 3: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Figure S3. showing the audiograms of each participant in the metabolic and sensory patient groups. (...

Additional file 2: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Figure S2. showing the audiograms of each participant in the dominant patient group. (PDF 485 kb

Additional file 1: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Figure S1. showing the audiograms of each participant in the recessive patient group. (PDF 486 kb

Additional file 8: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Table S4. and lists candidates for exclusion - genes with predicted pathogenic variants in many exom...

Additional file 16: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Table S12. giving details of very rare mutations identified in GPR98. (DOCX 19 kb

Additional file 1: of Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family

Na Shen (110593)
Ting Wang (16292)
Delei Li (3370511)
Aiguo Liu (129871)
Yanjun Lu (482204)

February 2019

Supplementary Materials and Tables. (a) The process of whole-exome sequencing (WES) analysis. (b) Ta...

Additional file 3: of Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness

Mun Chang (3471368)
Chung Lee (203278)
Jin Han (9149)
Min Kim (218786)
Hye-Rim Park (4890325)
Nayoung Kim (67514)
Woong-Yang Park (207980)
Doo Oh (4890328)
Byung Choi (3471371)

February 2018

Table S3. Exome sequencing statistics. The table lists information of human genome reference (v19), ...

Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.

Morag A Lewis
Jennifer Schulte
Lois Matthews
Kenneth I Vaden
Claire J Steves
Frances M K Williams
Bradley A Schulte
Judy R Dubno
Karen P Steel

November 2023

Adult-onset progressive hearing loss is a common, complex disease with a strong genetic component. A...

Additional file 13: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Table S9. giving details of genes with identical variants found in more than one person. (DOCX 16 kb

Additional file 12: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Table S8. giving details of the single very rare variants in known deafness genes found in multiple ...

Additional file 11: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Table S7. listing individuals with more than one very rare mutation in the same gene. (DOCX 20 kb

Additional file 10: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Table S6. listing individuals homozygous for very rare variants in any gene. (DOCX 15 kb

Additional file 7: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Table S3. listing genes reported to underlie deafness in humans and/or mice. (XLS 45 kb

Additional file 4: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Table S1. which lists the software prediction tools used to call and annotate variants, with relevan...

Additional file 5: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Figure S4. and legend detailing counts at each filtering step for common variant analysis. (PDF 259 ...

Additional file 3: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Figure S3. showing the audiograms of each participant in the metabolic and sensory patient groups. (...

Additional file 2: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Figure S2. showing the audiograms of each participant in the dominant patient group. (PDF 485 kb

Additional file 1: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Figure S1. showing the audiograms of each participant in the recessive patient group. (PDF 486 kb

Additional file 8: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Table S4. and lists candidates for exclusion - genes with predicted pathogenic variants in many exom...

Additional file 16: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Morag Lewis (508920)
Lisa Nolan (3531530)
Barbara Cadge (5718833)
Lois Matthews (4528711)
Bradley Schulte (5718836)
Judy Dubno (4528717)
Karen Steel (5718839)
Sally Dawson (5718842)

September 2018

Table S12. giving details of very rare mutations identified in GPR98. (DOCX 19 kb

Additional file 1: of Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family

Na Shen (110593)
Ting Wang (16292)
Delei Li (3370511)
Aiguo Liu (129871)
Yanjun Lu (482204)

February 2019

Supplementary Materials and Tables. (a) The process of whole-exome sequencing (WES) analysis. (b) Ta...

Additional file 3: of Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness

Mun Chang (3471368)
Chung Lee (203278)
Jin Han (9149)
Min Kim (218786)
Hye-Rim Park (4890325)
Nayoung Kim (67514)
Woong-Yang Park (207980)
Doo Oh (4890328)
Byung Choi (3471371)

February 2018

Table S3. Exome sequencing statistics. The table lists information of human genome reference (v19), ...

Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.

Morag A Lewis
Jennifer Schulte
Lois Matthews
Kenneth I Vaden
Claire J Steves
Frances M K Williams
Bradley A Schulte
Judy R Dubno
Karen P Steel

November 2023

Adult-onset progressive hearing loss is a common, complex disease with a strong genetic component. A...

Additional file 15: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Abstract

Extracted data

Additional file 15: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

Abstract

Extracted data

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