C1272 단어2:19뉴스 보도 영국 억양2026년 7월 10일 게시 · 2026년 7월 10일 업데이트

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A landmark genomic study published in the European Journal of Human Genetics has demonstrated that copy number variant analysis through exome sequencing can substantially enhance diagnostic yield for developmental disorders in African populations.

The research, conducted under the Deciphering Developmental Disorders in Africa initiative, employed two well-established bioinformatics tools utilizing distinct algorithmic approaches to identify copy number variants from existing exome sequencing data.

Researchers emphasized that this methodology could prove particularly transformative in resource-limited healthcare environments across the continent.

The DDD-Africa study was initiated with the explicit aim of implementing genomic medicine solutions for rare developmental disorders in Africa.

The project focused primarily on cohorts recruited from South Africa and the Democratic Republic of Congo.

Ethics approval was obtained from multiple institutions, including the University of the Witwatersrand, the University of Pretoria, and the University of Kinshasa, thereby ensuring rigorous ethical oversight throughout the investigation.

The cohort comprised 505 probands diagnosed with developmental disorders who had received no prior genetic diagnosis, along with their parents where available.

The average age of participants was 7.2 years, with males constituting sixty-two percent of the sample.

Recruitment yielded 358 participants from South Africa and 147 from the Democratic Republic of Congo, encompassing 239 trios, 235 duos, and 14 singletons.

#10

Were it not for advances in bioinformatics, extracting copy number variant data from exome sequencing would remain prohibitively challenging.

#11

The study's findings suggest that exome sequencing-based approaches could serve as a viable first-tier genetic diagnostic test for developmental disorders across Africa.

#12

Should these methods gain wider adoption, they would significantly reduce the financial burden associated with separate genomic analyses in regions where healthcare resources are scarce.

구문 목록 (4 개)

유형 태그, 이중 언어 정의, 사용 설명, 예문이 포함된 구문입니다.

diagnostic yield

technical term

The likelihood that a medical test or procedure will provide the information needed to establish a diagnosis.

진단율, 진단 검출률

설명: 의학 및 유전자 검사 분야에서 특정 검사 방법이 질병의 원인을 성공적으로 찾아내거나 확진 사례의 비율을 의미하며, 검사 도구의 효능을 평가하는 중요한 지표입니다.

예시: The introduction of next-generation sequencing has significantly increased the diagnostic yield for rare genetic diseases.

exome sequencing

technical term

A genomic technique for sequencing all of the protein-coding regions of genes in a genome.

외전자(exon) 서열 분석

설명: 유전체에서 단백질을 코딩하는 영역(엑손)만을 대상으로 염기서열을 분석하는 유전자 검사 기술로, 전체 유전체 염기서열 분석에 비해 비용 효율적입니다.

예시: Exome sequencing is widely used in clinical settings to identify mutations responsible for rare inherited disorders.

copy number variant

technical term

A phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals.

복제 수 변이

설명: 유전체의 특정 부분의 복제 수가 증가하거나 감소하는 변이 현상을 말하며, 많은 유전 질환과 발달 지연의 중요한 원인입니다.

예시: Copy number variant analysis can reveal genetic deletions or duplications that standard sequencing might miss.

Were it not for

idiom

If it were not for; used to say that something would happen or be true if another thing did not prevent it.

~가 아니었다면, ~이 없었다면...

설명: 이것은 고급 가정법 도치 구문입니다(원래는 If it were not for). 과거 또는 현재의 어떤 사실이 어떤 결과의 유일한 결정적 요인임을 나타낼 때 사용합니다. 어조가 비교적 격식 있고 문어적입니다.

예시: Were it not for your timely assistance, we would not have completed the project on schedule.

Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic...아프리카 발달장애 연구의 유전체학 돌파구

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