Fennell, Tim

The Sequence Alignment/Map format and SAMtools

Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., Marth, G., Abecasis, G., Durbin, R., & 1000 Genome Project Data Processing Subgroup (2009) · Bioinformatics

Genomics and Phylogenetic StudiesAlgorithms and Data Compression

Cited by 62,041

Somatic mutations affect key pathways in lung adenocarcinoma

Ding, L., Getz, G., Wheeler, D. A., Mardis, E. R., McLellan, M. D., Cibulskis, K., Sougnez, C., Greulich, H., Muzny, D. M., Morgan, M. B., et al. (2008) · Nature

Lung Cancer Treatments and MutationsCancer Genomics and Diagnostics

Cited by 2,681

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., et al. (2012) · Nature

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 1,734

A polygenic burden of rare disruptive mutations in schizophrenia

Purcell, S. M., Moran, J. L., Fromer, M., Ruderfer, D., Solovieff, N., Roussos, P., O’Dushlaine, C., Chambert, K., Bergen, S. E., Kähler, A., et al. (2014) · Nature

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 1,385

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

National Institute of Diabetes and Digestive Kidney Diseases Inflammatory Bowel Disease Genetics Consortium (NIDDK IBDGC), Rivas, M. A., United Kingdom Inflammatory Bowel Disease Genetics Consortium, International Inflammatory Bowel Disease Genetics Consortium, Beaudoin, M., Gardet, A., Stevens, C., Sharma, Y., Zhang, C. K., Boucher, G., et al. (2011) · Nature Genetics

Inflammatory Bowel DiseaseGenetic Associations and Epidemiology

Cited by 771

Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia

Musunuru, K., Pirruccello, J. P., Do, R., Peloso, G. M., Guiducci, C., Sougnez, C., Garimella, K. V., Fisher, S., Abreu, J., Barry, A. J., et al. (2010) · New England Journal of Medicine

Lipid metabolism and disordersLipoproteins and Cardiovascular Health

Cited by 754

Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy

Barretina, J., Taylor, B. S., Banerji, S., Ramos, A. H., Lagos-Quintana, M., DeCarolis, P. L., Shah, K., Socci, N. D., Weir, B. A., Ho, A., et al. (2010) · Nature Genetics

Sarcoma Diagnosis and TreatmentChromatin Remodeling and Cancer

Cited by 735

Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10

Maeder, M. L., Stefanidakis, M., Wilson, C. J., Baral, R., Barrera, L. A., Bounoutas, G. S., Bumcrot, D., Chao, H., Ciulla, D. M., DaSilva, J. A., et al. (2019) · Nature Medicine

Retinal Development and DisordersCRISPR and Genetic Engineering

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