Search Results - "Haque, Imran S"

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines by Kaseniit, Kristjan E., Haque, Imran S., Goldberg, James D., Shulman, Lee P., Muzzey, Dale

“…Carrier status associates strongly with genetic ancestry, yet current carrier screening guidelines recommend testing for a limited set of conditions based on a…”
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Machine learning enables detection of early-stage colorectal cancer by whole-genome sequencing of plasma cell-free DNA by Wan, Nathan, Weinberg, David, Liu, Tzu-Yu, Niehaus, Katherine, Ariazi, Eric A, Delubac, Daniel, Kannan, Ajay, White, Brandon, Bailey, Mitch, Bertin, Marvin, Boley, Nathan, Bowen, Derek, Cregg, James, Drake, Adam M, Ennis, Riley, Fransen, Signe, Gafni, Erik, Hansen, Loren, Liu, Yaping, Otte, Gabriel L, Pecson, Jennifer, Rice, Brandon, Sanderson, Gabriel E, Sharma, Aarushi, St John, John, Tang, Catherina, Tzou, Abraham, Young, Leilani, Putcha, Girish, Haque, Imran S

“…Blood-based methods using cell-free DNA (cfDNA) are under development as an alternative to existing screening tests. However, early-stage detection of cancer…”
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Expanded carrier screening: A review of early implementation and literature by Lazarin, Gabriel A., MS, Haque, Imran S., PhD

“…Abstract Carrier screening is the practice of testing individuals to identify those at increased risks of having children affected by genetic diseases…”
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Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels by Lazarin, Gabriel A, Hawthorne, Felicia, Collins, Nicholas S, Platt, Elizabeth A, Evans, Eric A, Haque, Imran S

“…Professional guidelines dictate that disease severity is a key criterion for carrier screening. Expanded carrier screening, which tests for hundreds to…”
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The population genetics of human disease: The case of recessive, lethal mutations by Amorim, Carlos Eduardo G, Gao, Ziyue, Baker, Zachary, Diesel, José Francisco, Simons, Yuval B, Haque, Imran S, Pickrell, Joseph, Przeworski, Molly

“…Do the frequencies of disease mutations in human populations reflect a simple balance between mutation and purifying selection? What other factors shape the…”
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Knowledge and attitudes regarding expanded genetic carrier screening among women’s healthcare providers by Ready, Kaylene, M.S, Haque, Imran S., Ph.D, Srinivasan, Balaji S., Ph.D, Marshall, John R., M.D

“…Objective To determine women’s healthcare providers’ knowledge and attitudes regarding genetic disorders and expanded genetic screening. Design Survey of…”
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Correction: The population genetics of human disease: The case of recessive, lethal mutations by Amorim, Carlos Eduardo G, Gao, Ziyue, Baker, Zachary, Diesel, José Francisco, Simons, Yuval B, Haque, Imran S, Pickrell, Joseph, Przeworski, Molly

“…[This corrects the article DOI: 10.1371/journal.pgen.1006915.]…”
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Current and future perspectives of liquid biopsies in genomics-driven oncology by Heitzer, Ellen, Haque, Imran S., Roberts, Charles E. S., Speicher, Michael R.

“…Precision oncology seeks to leverage molecular information about cancer to improve patient outcomes. Tissue biopsy samples are widely used to characterize…”
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Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening by Haque, Imran S, Lazarin, Gabriel A, Kang, H. Peter, Evans, Eric A, Goldberg, James D, Wapner, Ronald J

“…IMPORTANCE: Screening for carrier status of a limited number of single-gene conditions is the current standard of prenatal care. Methods have become available…”
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Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing by Kang, Hyunseok P, Maguire, Jared R, Chu, Clement S, Haque, Imran S, Lai, Henry, Mar-Heyming, Rebecca, Ready, Kaylene, Vysotskaia, Valentina S, Evans, Eric A

“…Hereditary breast and ovarian cancer syndrome, caused by a germline pathogenic variant in the BRCA1 or BRCA2 (BRCA1/2) genes, is characterized by an increased…”
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Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment by Vysotskaia, Valentina S, Hogan, Gregory J, Gould, Genevieve M, Wang, Xin, Robertson, Alex D, Haas, Kevin R, Theilmann, Mark R, Spurka, Lindsay, Grauman, Peter V, Lai, Henry H, Jeon, Diana, Haliburton, Genevieve, Leggett, Matt, Chu, Clement S, Iori, Kevin, Maguire, Jared R, Ready, Kaylene, Evans, Eric A, Kang, Hyunseok P, Haque, Imran S

“…The past two decades have brought many important advances in our understanding of the hereditary susceptibility to cancer. Numerous studies have provided…”
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Screening for Tay‐Sachs disease carriers by full‐exon sequencing with novel variant interpretation outperforms enzyme testing in a pan‐ethnic cohort by Cecchi, Alana C., Vengoechea, Elizabeth S., Kaseniit, Kristjan E., Hardy, Melanie W., Kiger, Laura A., Mehta, Nikita, Haque, Imran S., Moyer, Krista, Page, Patricia Z., Muzzey, Dale, Grinzaid, Karen A.

“…Background Pathogenic variants in HEXA that impair β‐hexosaminidase A (Hex A) enzyme activity cause Tay‐Sachs Disease (TSD), a severe autosomal‐recessive…”
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MSMBuilder2: Modeling Conformational Dynamics on the Picosecond to Millisecond Scale by Beauchamp, Kyle A, Bowman, Gregory R, Lane, Thomas J, Maibaum, Lutz, Haque, Imran S, Pande, Vijay S

“…Markov state models provide a framework for understanding the fundamental states and rates in the conformational dynamics of biomolecules. We describe an…”
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Enhanced DNA libraries for methylation analysis by Haque, Imran S.

“…An efficient protocol for the preparation of DNA libraries for the analysis of methylation patterns in cell-free DNA in plasma enhances the sensitivity of…”
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Building, benchmarking, and exploring perturbative maps of transcriptional and morphological data by Celik, Safiye, Hütter, Jan-Christian, Carlos, Sandra Melo, Lazar, Nathan H, Mohan, Rahul, Tillinghast, Conor, Biancalani, Tommaso, Fay, Marta M, Earnshaw, Berton A, Haque, Imran S

“…The continued scaling of genetic perturbation technologies combined with high-dimensional assays such as cellular microscopy and RNA-sequencing has enabled…”
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High-resolution genome-wide mapping of chromosome-arm-scale truncations induced by CRISPR–Cas9 editing by Lazar, Nathan H., Celik, Safiye, Chen, Lu, Fay, Marta M., Irish, Jonathan C., Jensen, James, Tillinghast, Conor A., Urbanik, John, Bone, William P., Gibson, Christopher C., Haque, Imran S.

“…Clustered regularly interspaced short palindromic repeats (CRISPR)–CRISPR-associated protein 9 (Cas9) is a powerful tool for introducing targeted mutations in…”
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An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals by Lazarin, Gabriel A., Haque, Imran S., Nazareth, Shivani, Iori, Kevin, Patterson, A. Scott, Jacobson, Jessica L., Marshall, John R., Seltzer, William K., Patrizio, Pasquale, Evans, Eric A., Srinivasan, Balaji S.

“…Purpose: Recent developments in genomics have led to expanded carrier screening panels capable of assessing hundreds of causal mutations for genetic disease…”
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Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples by Ghiossi, Caroline E., Goldberg, James D., Haque, Imran S., Lazarin, Gabriel A., Wong, Kenny K.

“…Expanded carrier screening (ECS) analyzes dozens or hundreds of recessive genes to determine reproductive risk. Data on the clinical utility of screening…”
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Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification by Hogan, Gregory J, Vysotskaia, Valentina S, Beauchamp, Kyle A, Seisenberger, Stefanie, Grauman, Peter V, Haas, Kevin R, Hong, Sun Hae, Jeon, Diana, Kash, Shera, Lai, Henry H, Melroy, Laura M, Theilmann, Mark R, Chu, Clement S, Iori, Kevin, Maguire, Jared R, Evans, Eric A, Haque, Imran S, Mar-Heyming, Rebecca, Kang, Hyunseok P, Muzzey, Dale

“…By identifying pathogenic variants across hundreds of genes, expanded carrier screening (ECS) enables prospective parents to assess the risk of transmitting an…”
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Smith–Lemli–Opitz syndrome carrier frequency and estimates of in utero mortality rates by Lazarin, Gabriel A., Haque, Imran S., Evans, Eric A., Goldberg, James D.

“…Objective To tabulate individual allele frequencies and total carrier frequency for Smith–Lemli–Opitz syndrome (SLOS) and compare expected versus observed…”
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