Biases in arginine codon usage correlate with genetic disease risk

Autor: Schulze, Katharina V., Hanchard, Neil A., Wangler, Michael F.

Publikováno v: In Genetics in Medicine August 2020 22(8):1407-1412

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.

Autor: Yuan, Bo^1,2 (AUTHOR), Schulze, Katharina V.^1,3 (AUTHOR), Assia Batzir, Nurit¹ (AUTHOR), Sinson, Jefferson¹ (AUTHOR), Dai, Hongzheng^1,3 (AUTHOR), Zhu, Wenmiao^1,3 (AUTHOR), Bocanegra, Francia⁴ (AUTHOR), Fong, Chin-To⁵ (AUTHOR), Holder, Jimmy⁶ (AUTHOR), Nguyen, Joanne⁷ (AUTHOR), Schaaf, Christian P.^1,8 (AUTHOR), Yang, Yaping¹ (AUTHOR), Bi, Weimin^1,3 (AUTHOR), Eng, Christine^1,3 (AUTHOR), Shaw, Chad^1,9 (AUTHOR), Lupski, James R.^1,2,6,10 (AUTHOR), Liu, Pengfei^1,3 (AUTHOR) pengfeil@bcm.edu

Publikováno v: Genome Medicine. 9/30/2022, Vol. 14 Issue 1, p1-24. 24p.

Additional file 2 of Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits

Autor: Yuan, Bo, Schulze, Katharina V., Assia Batzir, Nurit, Sinson, Jefferson, Dai, Hongzheng, Zhu, Wenmiao, Bocanegra, Francia, Fong, Chin-To, Holder, Jimmy, Nguyen, Joanne, Schaaf, Christian P., Yang, Yaping, Bi, Weimin, Eng, Christine, Shaw, Chad, Lupski, James R., Liu, Pengfei

Additional file 2: Supplementary Methods: Calculation of NAHR-deletion contribution to disease burden for a specific recessive disorder: modified model specific for NPHP1-2q13, 15q13.3 BP4-BP5, RBM8A-1q21.1 and TBX6-16p11.2.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e77485ce5cf5e11271461024b27459a

Additional file 1 of Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset

Autor: Domogala, Daniel D., Gambin, Tomasz, Zemet, Roni, Wu, Chung Wah, Schulze, Katharina V., Yang, Yaping, Wilson, Theresa A., Machol, Ido, Liu, Pengfei, Stankiewicz, Pawe��

Additional file 1. Supplementary Tables S1-S3 and Figures S1-S5.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c25af9461ee267001add0724859b11d

EP1243: COMMON VARIANTS IN CARBOHYDRATES DIGESTIVE ENZYME GENES ASSOCIATE WITH THE RISK OF IRRITABLE BOWEL SYNDROME

Autor: Hong, Hyejeong, Schulze, Katharina V., Copeland, Ian E., Atyam, Manasa, Kamp, Kendra, Hanchard, Neil, Belmont, John, Ringel-Kulka, Tamar, Heitkemper, Margaret, Shulman, Robert J.

Publikováno v: In Gastroenterology May 2022 162(7) Supplement:S