C1272 kata2:19Laporan Berita Aksen InggrisDiterbitkan 10 Jul 2026 · Diperbarui 10 Jul 2026

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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.

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

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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.

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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.

Daftar Frasa (4 frasa)

Frasa dengan label jenis, definisi dwibahasa, catatan penggunaan, dan contoh kalimat.

diagnostic yield

technical term

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

tingkat diagnostik, tingkat deteksi diagnosis

Penjelasan: Dalam bidang medis dan pengujian genetik, ini merujuk pada proporsi kasus di mana suatu metode pengujian berhasil mengidentifikasi penyebab penyakit atau kasus yang terkonfirmasi; ini adalah indikator penting untuk mengevaluasi efektivitas alat diagnostik.

Contoh: 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.

sekuensing eksom

Penjelasan: Sebuah teknik pengujian genetik yang secara khusus menargetkan wilayah genom yang bertanggung jawab untuk mengkode protein (ekson), yang lebih hemat biaya dibandingkan sekuensing seluruh genom.

Contoh: 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.

variasi jumlah salinan

Penjelasan: merujuk pada fenomena variasi di mana jumlah salinan suatu segmen dalam genom mengalami peningkatan atau penurunan, yang merupakan penyebab penting dari banyak penyakit genetik dan keterlambatan perkembangan.

Contoh: 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.

jika bukan karena, seandainya bukan karena...

Penjelasan: ini adalah pola kalimat inversi subjungtif tingkat lanjut (aslinya If it were not for), yang digunakan untuk menyatakan bahwa suatu fakta di masa lalu atau sekarang merupakan faktor penentu tunggal dari suatu hasil. Nada kalimatnya lebih formal dan bersifat tulisan.

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

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