Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Donald Freed"'
Publikováno v:
Genes, Vol 5, Iss 4, Pp 1064-1094 (2014)
Somatic mosaicism refers to the occurrence of two genetically distinct populations of cells within an individual, derived from a postzygotic mutation. In contrast to inherited mutations, somatic mosaic mutations may affect only a portion of the body
Externí odkaz:
https://doaj.org/article/77423e76d11344dd93eacde904fb5a7b
Autor:
Donald Freed, Jonathan Pevsner
Publikováno v:
PLoS Genetics, Vol 12, Iss 9, p e1006245 (2016)
De novo mutation is highly implicated in autism spectrum disorder (ASD). However, the contribution of post-zygotic mutation to ASD is poorly characterized. We performed both exome sequencing of paired samples and analysis of de novo variants from who
Externí odkaz:
https://doaj.org/article/1fd017371cf5407e9dae93760ca81b99
Autor:
Rafael, Aldana, Donald, Freed
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 2493
Public and private genomic sequencing initiatives generate ever-increasing amounts of genomic data creating a need for improved solutions for genomics data processing (Stephens et al.PLoS Biol 13:e1002195, 2015). The Sentieon
Autor:
Jinnan Hu, Cai Jiang, Yu S. Huang, Haodong Chen, Hanying Feng, Donald Freed, Yan Qu, Rui Fan, Zhencheng Su, Weizhi Chen
Liquid biopsy enables identification of low allele frequency (AF) tumor variants and novel clinical applications such as minimum residual disease (MRD) monitoring. However, challenges remain, primarily due to limited sample volume and low read count
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f7fa6232e87cc6055344bb047a29c11c
https://doi.org/10.1101/2022.06.03.494742
https://doi.org/10.1101/2022.06.03.494742
PacBio® HiFi sequencing is the first technology to offer economical and highly accurate long-read sequencing, with average read lengths greater than 10kb and average base accuracy of 99.8%1. Here, we present DNAscope LongRead, an accurate and effici
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1f8dc67e371166888f5866b9aad4c172
https://doi.org/10.1101/2022.06.01.494452
https://doi.org/10.1101/2022.06.01.494452
We present DNAscope, an accurate and efficient germline small-variant caller. DNAscope combines the robust and well-established preprocessing and assembly mathematics of the GATK’s HaplotypeCaller with a machine-learned genotyping model. Benchmarks
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::29cc282192ef446532b9ba2f49034697
https://doi.org/10.1101/2022.05.20.492556
https://doi.org/10.1101/2022.05.20.492556
Detection of somatic mutations in tumor samples is important in the clinic, where treatment decisions are increasingly based upon molecular diagnostics. However, accurate detection of these mutations is difficult, due in part to intra-tumor heterogen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d30540d0ff7d0d96e253ae09fd5fc1fb
https://doi.org/10.1101/250647
https://doi.org/10.1101/250647
Publikováno v:
Genes
Genes, Vol 5, Iss 4, Pp 1064-1094 (2014)
Genes, Vol 5, Iss 4, Pp 1064-1094 (2014)
Somatic mosaicism refers to the occurrence of two genetically distinct populations of cells within an individual, derived from a postzygotic mutation. In contrast to inherited mutations, somatic mosaic mutations may affect only a portion of the body
In the past six years worldwide capacity for human genome sequencing has grown by more than five orders of magnitude, with costs falling by nearly two orders of magnitude over the same period [1], [2]. The rapid expansion in the production of next-ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32498373a730229192e2ac6ad53f74ab
Autor:
Xinyan Wu, Nandini A. Sahasrabuddhe, Sreelakshmi K. Sreenivasamurthy, Vishalakshi Nanjappa, Krishna R Murthy, Savita Jayaram, Aafaque Ahmad Khan, Subramanian Shankar, Shobhit Jain, Apeksha Sahu, Tejaswini Subbannayya, Pavithra Rajagopalan, Nazia Syed, Christine A. Iacobuzio-Donahue, Susarla K. Shankar, Ralph H. Hruban, Lavanya Balakrishnan, T. S. Keshava Prasad, Santosh Renuse, Dhanashree S. Kelkar, Praveen Kumar, Harsha Gowda, Candace L. Kerr, Samarjeet Prasad, Steven D. Leach, Patrick G. Shaw, Bijesh George, Tai-Chung Huang, Charles G. Drake, Rajesh Raju, John T. Schroeder, Donald Freed, Sandip Chavan, Ravi Sirdeshmukh, Raja Sekhar Nirujogi, Pamela Leal-Rojas, Keshava K. Datta, Joji Kurian Thomas, Sneha M. Pinto, Anirban Maitra, Lakshmi Dhevi N. Selvan, Manish Kumar, Aditi Chatterjee, Derese Getnet, Gourav Dey, Jayshree Advani, Henry H N Lam, Min-Sik Kim, Srikanth S. Manda, Ruth Isserlin, Anil K. Madugundu, Jun Zhong, Jyoti Sharma, Gajanan Sathe, Babylakshmi Muthusamy, Yashwanth Subbannayya, Soujanya D. Yelamanchi, Anita Mahadevan, Parthasarathy Satishchandra, Gary D. Bader, Sartaj Ahmad, Renu Goel, Muhammad Saddiq Zahari, Kanchan K Mukherjee, Arun H. Patil, Chris J. Mitchell, Keshav Mudgal, Arivusudar Marimuthu, Marc K. Halushka, Raghothama Chaerkady, Aneesha Radhakrishnan, Akhilesh Pandey
Publikováno v:
Nature
The availability of human genome sequence has transformed biomedical research over the past decade. However, an equivalent map for the human proteome with direct measurements of proteins and peptides does not exist yet. Here we present a draft map of