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Copy number variation

De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam

Hoa Thi Phuong Bui, Duong Huy Do, Ha Thi Thanh Ly, Kien Trung Tran, Huong Thi Thanh Le, Kien Trung Nguyen, Linh Thi Dieu Pham, Hau Duc Le, Vinh Sy Le, Arijit Mukhopadhyay, Liem Thanh Nguyen

published 07 Mar 2024

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Analytical validation of GenoPharm a clinical genotyping open array panel of 46 pharmacogenes inclusive of variants unique to people of African ancestry

Comfort Ropafadzo Kanji, Bianza Tinotenda Mbavha, Collen Masimirembwa, Roslyn Stella Thelingwani

published 03 Oct 2023

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T cell-mediated tumor killing patterns in head and neck squamous cell carcinoma identify novel molecular subtypes, with prognosis and therapeutic implications

Zilu Meng, Lei Zhu, Wanyu Liu, Wenhan Yang, Yudong Wang

published 16 May 2023

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A comprehensive performance analysis of sequence-based within-sample testing NIPT methods

Tom Mokveld, Zaid Al-Ars, Erik A. Sistermans, Marcel Reinders

published 14 Apr 2023

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Identification of copy number variations in the genome of Dairy Gir cattle

Larissa G. Braga, Tatiane C. S. Chud, Rafael N. Watanabe, Rodrigo P. Savegnago, Thomaz M. Sena, Adriana S. do Carmo, Marco A. Machado, João Cláudio do C. Panetto, Marcos Vinicius G. B. da Silva, Danísio P. Munari

published 10 Apr 2023

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Pharmacogenetic allele variant frequencies: An analysis of the VA’s Million Veteran Program (MVP) as a representation of the diversity in US population

Kyriacos Markianos, Frederic Dong, Bryan Gorman, Yunling Shi, Daniel Dochtermann, Uma Saxena, Poornima Devineni, Jennifer Moser, Sumitra Muralidhar, Rachel Ramoni, Philip Tsao, Saiju Pyarajan, Ronald Przygodzki, for the Million Veteran Program

published 24 Feb 2023

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Quantitative PCR from human genomic DNA: The determination of gene copy numbers for congenital adrenal hyperplasia and RCCX copy number variation

Márton Doleschall, Ottó Darvasi, Zoltán Herold, Zoltán Doleschall, Gábor Nyirő, Anikó Somogyi, Péter Igaz, Attila Patócs

published 01 Dec 2022

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FCGR3A gene duplication, FcγRIIb-232TT and FcγRIIIb-HNA1a associate with an increased risk of vertical acquisition of HIV-1

Joy Ebonwu, Ria Lassaunière, Maria Paximadis, Renate Strehlau, Glenda E. Gray, Louise Kuhn, Caroline T. Tiemessen

published 09 Sep 2022

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Exonic deletions in IMMP2L in schizophrenia with enhanced glycation stress subtype

Akane Yoshikawa, Itaru Kushima, Mitsuhiro Miyashita, Kazuhiro Suzuki, Kyoka Iino, Kazuya Toriumi, Yasue Horiuchi, Hideya Kawaji, Norio Ozaki, Masanari Itokawa, Makoto Arai

published 01 Jul 2022

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A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region

Lydia Sagath, Vilma-Lotta Lehtokari, Carina Wallgren-Pettersson, Katarina Pelin, Kirsi Kiiski

published 16 May 2022

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vWCluster: Vector-valued optimal transport for network based clustering using multi-omics data in breast cancer

Jiening Zhu, Jung Hun Oh, Joseph O. Deasy, Allen R. Tannenbaum

published 14 Mar 2022

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DriverFuse: An R package for analysis of next-generation sequencing datasets to identify cancer driver fusion genes

Shikha Roy, Dinesh Gupta

published 03 Feb 2022

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Have maternal or paternal ages any impact on the prenatal incidence of genomic copy number variants associated with fetal structural anomalies?

Marta Larroya, Marta Tortajada, Eduard Mensión, Montse Pauta, Laia Rodriguez-Revenga, Antoni Borrell

published 09 Jul 2021

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