2016
DOI: 10.1186/s13059-016-1128-4
|View full text |Cite
|
Sign up to set email alerts
|

Human sex development: targeted technologies to improve diagnosis

Abstract: A new study of disorders of sex development presents an improved targeted next-generation sequencing approach for their diagnosis.Please see related Research article: http://genomebiology.biomedcentral.com/articles/10.1186/s13059-016-1105-y.

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
4
1

Citation Types

2
9
1

Year Published

2017
2017
2022
2022

Publication Types

Select...
5
1
1

Relationship

0
7

Authors

Journals

citations
Cited by 15 publications
(12 citation statements)
references
References 10 publications
(16 reference statements)
2
9
1
Order By: Relevance
“…Copy number variants (CNV) affecting coding sequences or regulatory elements of critical dosage-sensitive genes, as well as single nucleotide variants (SNVs) in at least 75 genes involved in gonadal development and/or sex hormone biosynthesis/action are known causes of DSDs (Ahmed and Hughes, 2002;Vilain, E., 2010;Auchus and Miller, 2012;Buonocore and Achermann, 2016;Croft et al, 2018;Délot et al, 2017;Eggers and Sinclair, 2012;. Genetic etiology has been well established for many sex differentiation conditions.…”
Section: Genetics Of Dsdsmentioning
confidence: 99%
“…Copy number variants (CNV) affecting coding sequences or regulatory elements of critical dosage-sensitive genes, as well as single nucleotide variants (SNVs) in at least 75 genes involved in gonadal development and/or sex hormone biosynthesis/action are known causes of DSDs (Ahmed and Hughes, 2002;Vilain, E., 2010;Auchus and Miller, 2012;Buonocore and Achermann, 2016;Croft et al, 2018;Délot et al, 2017;Eggers and Sinclair, 2012;. Genetic etiology has been well established for many sex differentiation conditions.…”
Section: Genetics Of Dsdsmentioning
confidence: 99%
“…Testicular development was dependent on genes for testis determination and differentiation and on pathway of androgen metabolism and action. 5‐alpha‐reductase‐2 (SRD5A2) can convert testosterone to DHT; an activated form of testosterone and androgen receptor (AR) has a main role in 46,XY DSD (Arboleda, Sandberg, & Vilain, ; Buonocore & Achermann, ; Yatsenko & Witchel, ). Prevalence of genital anomalies is 1 in 300 births, and prevalence of genital ambiguity is approximately 1 in 4,500 to 5,000 births (Ahmed, Bashamboo, Lucas‐Herald, & McElreavey, ).…”
Section: Introductionmentioning
confidence: 99%
“…The key to achieving safety in affected families is to identify and diagnose the disorders properly. Only a minority of patients, comprising 20% of cases, clinically diagnosed with DSD pursue their genetic and molecular aetiology; therefore, a large gap exists in our understanding of prevalence, management and outcome in affected patients (Arboleda et al, ; Buonocore & Achermann, ).…”
Section: Introductionmentioning
confidence: 99%
“…Recent advances in next-generation sequencing (NGS) techniques have enabled massive parallel sequencing of multiple genes. Targeted enrichment techniques have been developed to reduce genome complexity via targeted sequence captures and optimized the coverage of targeted regions for high throughput deep sequencing rather than whole exome sequencing (WES) or whole genome sequencing (WGS) [8]. Therefore, NGS techniques have changed how genetic research assesses genetically heterogeneous diseases.…”
Section: Introductionmentioning
confidence: 99%