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Page 1
A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner.
Boltz TA, Chu BB, Liao C, Sealock JM, Ye R, Majara L, Fu JM, Service S, Zhan L, Medland SE, Chapman SB, Rubinacci S, DeFelice M, Grimsby JL, Abebe T, Alemayehu M, Ashaba FK, Atkinson EG, Bigdeli T, Bradway AB, Brand H, Chibnik LB, Fekadu A, Gatzen M, Gelaye B, Gichuru S, Gildea ML, Hill TC, Huang H, Hubbard KM, Injera WE, James R, Joloba M, Kachulis C, Kalmbach PR, Kamulegeya R, Kigen G, Kim S, Koen N, Kwobah EK, Kyebuzibwa J, Lee S, Lennon NJ, Lind PA, Lopera-Maya EA, Makale J, Mangul S, McMahon J, Mowlem P, Musinguzi H, Mwema RM, Nakasujja N, Newman CP, Nkambule LL, O'Neil CR, Olivares AM, Olsen CM, Ongeri L, Parsa SJ, Pretorius A, Ramesar R, Reagan FL, Sabatti C, Schneider JA, Shiferaw W, Stevenson A, Stricker E, Stroud RE 2nd, Tang J, Whiteman D, Yohannes MT, Yu M, Yuan K; NeuroGAP-Psychosis; Akena D, Atwoli L, Kariuki SM, Koenen KC, Newton CRJC, Stein DJ, Teferra S, Zingela Z, Pato CN, Pato MT, Lopez-Jaramillo C, Freimer N, Ophoff RA, Olde Loohuis LM, Talkowski ME, Neale BM, Howrigan DP, Martin AR. Boltz TA, et al. Among authors: chapman sb. bioRxiv [Preprint]. 2024 Sep 8:2024.09.06.611689. doi: 10.1101/2024.09.06.611689. bioRxiv. 2024. PMID: 39282356 Free PMC article. Preprint.
Blended Genome Exome (BGE) as a Cost Efficient Alternative to Deep Whole Genomes or Arrays.
DeFelice M, Grimsby JL, Howrigan D, Yuan K, Chapman SB, Stevens C, DeLuca S, Townsend M, Buxbaum J, Pericak-Vance M, Qin S, Stein DJ, Teferra S, Xavier RJ, Huang H, Martin AR, Neale BM. DeFelice M, et al. Among authors: chapman sb. bioRxiv [Preprint]. 2024 Jul 30:2024.04.03.587209. doi: 10.1101/2024.04.03.587209. bioRxiv. 2024. PMID: 38645052 Free PMC article. Preprint.
Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations.
Martin AR, Atkinson EG, Chapman SB, Stevenson A, Stroud RE, Abebe T, Akena D, Alemayehu M, Ashaba FK, Atwoli L, Bowers T, Chibnik LB, Daly MJ, DeSmet T, Dodge S, Fekadu A, Ferriera S, Gelaye B, Gichuru S, Injera WE, James R, Kariuki SM, Kigen G, Koenen KC, Kwobah E, Kyebuzibwa J, Majara L, Musinguzi H, Mwema RM, Neale BM, Newman CP, Newton CRJC, Pickrell JK, Ramesar R, Shiferaw W, Stein DJ, Teferra S, van der Merwe C, Zingela Z; NeuroGAP-Psychosis Study Team. Martin AR, et al. Among authors: chapman sb. Am J Hum Genet. 2021 Apr 1;108(4):656-668. doi: 10.1016/j.ajhg.2021.03.012. Epub 2021 Mar 25. Am J Hum Genet. 2021. PMID: 33770507 Free PMC article.
Increasing diversity in genomics requires investment in equitable partnerships and capacity building.
Martin AR, Stroud RE 2nd, Abebe T, Akena D, Alemayehu M, Atwoli L, Chapman SB, Flowers K, Gelaye B, Gichuru S, Kariuki SM, Kinyanjui S, Korte KJ, Koen N, Koenen KC, Newton CRJC, Olivares AM, Pollock S, Post K, Singh I, Stein DJ, Teferra S, Zingela Z, Chibnik LB. Martin AR, et al. Among authors: chapman sb. Nat Genet. 2022 Jun;54(6):740-745. doi: 10.1038/s41588-022-01095-y. Nat Genet. 2022. PMID: 35668301 Free PMC article.
Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia.
Palmer DS, Howrigan DP, Chapman SB, Adolfsson R, Bass N, Blackwood D, Boks MPM, Chen CY, Churchhouse C, Corvin AP, Craddock N, Curtis D, Di Florio A, Dickerson F, Freimer NB, Goes FS, Jia X, Jones I, Jones L, Jonsson L, Kahn RS, Landén M, Locke AE, McIntosh AM, McQuillin A, Morris DW, O'Donovan MC, Ophoff RA, Owen MJ, Pedersen NL, Posthuma D, Reif A, Risch N, Schaefer C, Scott L, Singh T, Smoller JW, Solomonson M, Clair DS, Stahl EA, Vreeker A, Walters JTR, Wang W, Watts NA, Yolken R, Zandi PP, Neale BM. Palmer DS, et al. Among authors: chapman sb. Nat Genet. 2022 May;54(5):541-547. doi: 10.1038/s41588-022-01034-x. Epub 2022 Apr 11. Nat Genet. 2022. PMID: 35410376 Free PMC article.
Rare coding variants in ten genes confer substantial risk for schizophrenia.
Singh T, Poterba T, Curtis D, Akil H, Al Eissa M, Barchas JD, Bass N, Bigdeli TB, Breen G, Bromet EJ, Buckley PF, Bunney WE, Bybjerg-Grauholm J, Byerley WF, Chapman SB, Chen WJ, Churchhouse C, Craddock N, Cusick CM, DeLisi L, Dodge S, Escamilla MA, Eskelinen S, Fanous AH, Faraone SV, Fiorentino A, Francioli L, Gabriel SB, Gage D, Gagliano Taliun SA, Ganna A, Genovese G, Glahn DC, Grove J, Hall MH, Hämäläinen E, Heyne HO, Holi M, Hougaard DM, Howrigan DP, Huang H, Hwu HG, Kahn RS, Kang HM, Karczewski KJ, Kirov G, Knowles JA, Lee FS, Lehrer DS, Lescai F, Malaspina D, Marder SR, McCarroll SA, McIntosh AM, Medeiros H, Milani L, Morley CP, Morris DW, Mortensen PB, Myers RM, Nordentoft M, O'Brien NL, Olivares AM, Ongur D, Ouwehand WH, Palmer DS, Paunio T, Quested D, Rapaport MH, Rees E, Rollins B, Satterstrom FK, Schatzberg A, Scolnick E, Scott LJ, Sharp SI, Sklar P, Smoller JW, Sobell JL, Solomonson M, Stahl EA, Stevens CR, Suvisaari J, Tiao G, Watson SJ, Watts NA, Blackwood DH, Børglum AD, Cohen BM, Corvin AP, Esko T, Freimer NB, Glatt SJ, Hultman CM, McQuillin A, Palotie A, Pato CN, Pato MT, Pulver AE, St Clair D, Tsuang MT, Vawter MP, Walters JT, Werge TM, Ophoff RA, Sullivan… See abstract for full author list ➔ Singh T, et al. Among authors: chapman sb. Nature. 2022 Apr;604(7906):509-516. doi: 10.1038/s41586-022-04556-w. Epub 2022 Apr 8. Nature. 2022. PMID: 35396579 Free PMC article.
Inferring compound heterozygosity from large-scale exome sequencing data.
Guo MH, Francioli LC, Stenton SL, Goodrich JK, Watts NA, Singer-Berk M, Groopman E, Darnowsky PW, Solomonson M, Baxter S; gnomAD Project Consortium; Tiao G, Neale BM, Hirschhorn JN, Rehm HL, Daly MJ, O'Donnell-Luria A, Karczewski KJ, MacArthur DG, Samocha KE. Guo MH, et al. Nat Genet. 2024 Jan;56(1):152-161. doi: 10.1038/s41588-023-01608-3. Epub 2023 Dec 6. Nat Genet. 2024. PMID: 38057443 Free PMC article.
A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Chen S, et al. Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6. Nature. 2024. PMID: 38057664 Free PMC article.
Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts.
Wang Y, Namba S, Lopera E, Kerminen S, Tsuo K, Läll K, Kanai M, Zhou W, Wu KH, Favé MJ, Bhatta L, Awadalla P, Brumpton B, Deelen P, Hveem K, Lo Faro V, Mägi R, Murakami Y, Sanna S, Smoller JW, Uzunovic J, Wolford BN; Global Biobank Meta-analysis Initiative; Willer C, Gamazon ER, Cox NJ, Surakka I, Okada Y, Martin AR, Hirbo J. Wang Y, et al. Cell Genom. 2023 Jan 4;3(1):100241. doi: 10.1016/j.xgen.2022.100241. eCollection 2023 Jan 11. Cell Genom. 2023. PMID: 36777179 Free PMC article.
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X, Goes FS, Locke AE, Palmer D, Wang W, Cohen-Woods S, Genovese G, Jackson AU, Jiang C, Kvale M, Mullins N, Nguyen H, Pirooznia M, Rivera M, Ruderfer DM, Shen L, Thai K, Zawistowski M, Zhuang Y, Abecasis G, Akil H, Bergen S, Burmeister M, Chapman S, DelaBastide M, Juréus A, Kang HM, Kwok PY, Li JZ, Levy SE, Monson ET, Moran J, Sobell J, Watson S, Willour V, Zöllner S, Adolfsson R, Blackwood D, Boehnke M, Breen G, Corvin A, Craddock N, DiFlorio A, Hultman CM, Landen M, Lewis C, McCarroll SA, Richard McCombie W, McGuffin P, McIntosh A, McQuillin A, Morris D, Myers RM, O'Donovan M, Ophoff R, Boks M, Kahn R, Ouwehand W, Owen M, Pato C, Pato M, Posthuma D, Potash JB, Reif A, Sklar P, Smoller J, Sullivan PF, Vincent J, Walters J, Neale B, Purcell S, Risch N, Schaefer C, Stahl EA, Zandi PP, Scott LJ. Jia X, et al. Mol Psychiatry. 2021 Sep;26(9):5239-5250. doi: 10.1038/s41380-020-01006-9. Epub 2021 Jan 22. Mol Psychiatry. 2021. PMID: 33483695 Free PMC article.
151 results