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Pangenomics enables genotyping of known structural variants in 5202 diverse genomes.

Science (New York, N.Y.)

Sirén J, Monlong J, Chang X, Novak AM, Eizenga JM, Markello C, Sibbesen JA, Hickey G, Chang PC, Carroll A, Gupta N, Gabriel S, Blackwell TW, Ratan A, Taylor KD, Rich SS, Rotter JI, Haussler D, Garrison E, Paten B.
PMID: 34914532
Science. 2021 Dec 17;374(6574):abg8871. doi: 10.1126/science.abg8871. Epub 2021 Dec 17.

[Figure: see text].

Cite
Sirén J, Monlong J, Chang X, et al. Pangenomics enables genotyping of known structural variants in 5202 diverse genomes. Science. 2021;374(6574):abg8871doi: 10.1126/science.abg8871.
Sirén, J., Monlong, J., Chang, X., Novak, A. M., Eizenga, J. M., Markello, C., Sibbesen, J. A., Hickey, G., Chang, P. C., Carroll, A., Gupta, N., Gabriel, S., Blackwell, T. W., Ratan, A., Taylor, K. D., Rich, S. S., Rotter, J. I., Haussler, D., Garrison, E., & Paten, B. (2021). Pangenomics enables genotyping of known structural variants in 5202 diverse genomes. Science (New York, N.Y.), 374(6574), abg8871. https://doi.org/10.1126/science.abg8871
Sirén, Jouni, et al. "Pangenomics enables genotyping of known structural variants in 5202 diverse genomes." Science (New York, N.Y.) vol. 374,6574 (2021): abg8871. doi: https://doi.org/10.1126/science.abg8871
Sirén J, Monlong J, Chang X, Novak AM, Eizenga JM, Markello C, Sibbesen JA, Hickey G, Chang PC, Carroll A, Gupta N, Gabriel S, Blackwell TW, Ratan A, Taylor KD, Rich SS, Rotter JI, Haussler D, Garrison E, Paten B. Pangenomics enables genotyping of known structural variants in 5202 diverse genomes. Science. 2021 Dec 17;374(6574):abg8871. doi: 10.1126/science.abg8871. Epub 2021 Dec 17. PMID: 34914532.
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Comparison of whole genome sequencing and targeted sequencing for mitochondrial DNA.

Mitochondrion

Chen R, Aldred MA, Xu W, Zein J, Bazeley P, Comhair SAA, Meyers DA, Bleecker ER, Liu C, Erzurum SC, Hu B.
PMID: 33513442
Mitochondrion. 2021 May;58:303-310. doi: 10.1016/j.mito.2021.01.006. Epub 2021 Jan 26.

Mitochondrial dysfunction has emerged to be associated with a broad spectrum of diseases, and there is an increasing demand for accurate detection of mitochondrial DNA (mtDNA) variants. Whole genome sequencing (WGS) has been the dominant sequencing approach to identify...

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Chen R, Aldred MA, Xu W, et al. Comparison of whole genome sequencing and targeted sequencing for mitochondrial DNA. Mitochondrion. 2021;58:303-310doi: 10.1016/j.mito.2021.01.006.
Chen, R., Aldred, M. A., Xu, W., Zein, J., Bazeley, P., Comhair, S. A. A., Meyers, D. A., Bleecker, E. R., Liu, C., Erzurum, S. C., Hu, B. (2021). Comparison of whole genome sequencing and targeted sequencing for mitochondrial DNA. Mitochondrion, 58303-310. https://doi.org/10.1016/j.mito.2021.01.006
Chen, Ruoying, et al. "Comparison of whole genome sequencing and targeted sequencing for mitochondrial DNA." Mitochondrion vol. 58 (2021): 303-310. doi: https://doi.org/10.1016/j.mito.2021.01.006
Chen R, Aldred MA, Xu W, Zein J, Bazeley P, Comhair SAA, Meyers DA, Bleecker ER, Liu C, Erzurum SC, Hu B. Comparison of whole genome sequencing and targeted sequencing for mitochondrial DNA. Mitochondrion. 2021 May;58:303-310. doi: 10.1016/j.mito.2021.01.006. Epub 2021 Jan 26. PMID: 33513442; PMCID: PMC8354572.
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Effect of Sickle Cell Trait and .

Clinical journal of the American Society of Nephrology : CJASN

Reiner AP, Raffield LM, Franceschini N, Auer PL, Lange EM, Nickerson DA, Zakai NA, Correa A, Olson N.
PMID: 33268503
Clin J Am Soc Nephrol. 2021 Feb 08;16(2):287-289. doi: 10.2215/CJN.12100720. Epub 2020 Dec 02.

No abstract available.

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Reiner AP, Raffield LM, Franceschini N, et al. Effect of Sickle Cell Trait and . Clin J Am Soc Nephrol. 2020;16(2):287-289doi: 10.2215/CJN.12100720.
Reiner, A. P., Raffield, L. M., Franceschini, N., Auer, P. L., Lange, E. M., Nickerson, D. A., Zakai, N. A., Correa, A., Olson, N. (2021). Effect of Sickle Cell Trait and . Clinical journal of the American Society of Nephrology : CJASN, 16(2), 287-289. https://doi.org/10.2215/CJN.12100720
Reiner, Alexander P, et al. "Effect of Sickle Cell Trait and ." Clinical journal of the American Society of Nephrology : CJASN vol. 16,2 (2021): 287-289. doi: https://doi.org/10.2215/CJN.12100720
Reiner AP, Raffield LM, Franceschini N, Auer PL, Lange EM, Nickerson DA, Zakai NA, Correa A, Olson N. Effect of Sickle Cell Trait and . Clin J Am Soc Nephrol. 2021 Feb 08;16(2):287-289. doi: 10.2215/CJN.12100720. Epub 2020 Dec 02. PMID: 33268503; PMCID: PMC7863645.
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Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women.

Circulation

Honigberg MC, Zekavat SM, Niroula A, Griffin GK, Bick AG, Pirruccello JP, Nakao T, Whitsel EA, Farland LV, Laurie C, Kooperberg C, Manson JE, Gabriel S, Libby P, Reiner AP, Ebert BL, Natarajan P.
PMID: 33161765
Circulation. 2021 Feb 02;143(5):410-423. doi: 10.1161/CIRCULATIONAHA.120.051775. Epub 2020 Nov 09.

BACKGROUND: Premature menopause is an independent risk factor for cardiovascular disease in women, but mechanisms underlying this association remain unclear. Clonal hematopoiesis of indeterminate potential (CHIP), the age-related expansion of hematopoietic cells with leukemogenic mutations without detectable malignancy, is...

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Honigberg MC, Zekavat SM, Niroula A, et al. Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women. Circulation. 2020;143(5):410-423doi: 10.1161/CIRCULATIONAHA.120.051775.
Honigberg, M. C., Zekavat, S. M., Niroula, A., Griffin, G. K., Bick, A. G., Pirruccello, J. P., Nakao, T., Whitsel, E. A., Farland, L. V., Laurie, C., Kooperberg, C., Manson, J. E., Gabriel, S., Libby, P., Reiner, A. P., Ebert, B. L., & Natarajan, P. (2021). Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women. Circulation, 143(5), 410-423. https://doi.org/10.1161/CIRCULATIONAHA.120.051775
Honigberg, Michael C, et al. "Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women." Circulation vol. 143,5 (2021): 410-423. doi: https://doi.org/10.1161/CIRCULATIONAHA.120.051775
Honigberg MC, Zekavat SM, Niroula A, Griffin GK, Bick AG, Pirruccello JP, Nakao T, Whitsel EA, Farland LV, Laurie C, Kooperberg C, Manson JE, Gabriel S, Libby P, Reiner AP, Ebert BL, Natarajan P. Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women. Circulation. 2021 Feb 02;143(5):410-423. doi: 10.1161/CIRCULATIONAHA.120.051775. Epub 2020 Nov 09. PMID: 33161765; PMCID: PMC7911856.
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Pangenomics enables genotyping of known structural variants in 5202 diverse genomes.

Science (New York, N.Y.)

Sirén J, Monlong J, Chang X, Novak AM, Eizenga JM, Markello C, Sibbesen JA, Hickey G, Chang PC, Carroll A, Gupta N, Gabriel S, Blackwell TW, Ratan A, Taylor KD, Rich SS, Rotter JI, Haussler D, Garrison E, Paten B.
PMID: 34914532
Science. 2021 Dec 17;374(6574):abg8871. doi: 10.1126/science.abg8871. Epub 2021 Dec 17.

[Figure: see text].

Cite
Sirén J, Monlong J, Chang X, et al. Pangenomics enables genotyping of known structural variants in 5202 diverse genomes. Science. 2021;374(6574):abg8871doi: 10.1126/science.abg8871.
Sirén, J., Monlong, J., Chang, X., Novak, A. M., Eizenga, J. M., Markello, C., Sibbesen, J. A., Hickey, G., Chang, P. C., Carroll, A., Gupta, N., Gabriel, S., Blackwell, T. W., Ratan, A., Taylor, K. D., Rich, S. S., Rotter, J. I., Haussler, D., Garrison, E., & Paten, B. (2021). Pangenomics enables genotyping of known structural variants in 5202 diverse genomes. Science (New York, N.Y.), 374(6574), abg8871. https://doi.org/10.1126/science.abg8871
Sirén, Jouni, et al. "Pangenomics enables genotyping of known structural variants in 5202 diverse genomes." Science (New York, N.Y.) vol. 374,6574 (2021): abg8871. doi: https://doi.org/10.1126/science.abg8871
Sirén J, Monlong J, Chang X, Novak AM, Eizenga JM, Markello C, Sibbesen JA, Hickey G, Chang PC, Carroll A, Gupta N, Gabriel S, Blackwell TW, Ratan A, Taylor KD, Rich SS, Rotter JI, Haussler D, Garrison E, Paten B. Pangenomics enables genotyping of known structural variants in 5202 diverse genomes. Science. 2021 Dec 17;374(6574):abg8871. doi: 10.1126/science.abg8871. Epub 2021 Dec 17. PMID: 34914532.
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A unifying framework for rare variant association testing in family-based designs, including higher criticism approaches, SKATs, and burden tests.

Bioinformatics (Oxford, England)

Hecker J, William Townes F, Kachroo P, Laurie C, Lasky-Su J, Ziniti J, Cho MH, Weiss ST, Laird NM, Lange C.
PMID: 33367522
Bioinformatics. 2020 Dec 26; doi: 10.1093/bioinformatics/btaa1055. Epub 2020 Dec 26.

MOTIVATION: Analysis of rare variants in family-based studies remains a challenge. Transmission-based approaches provide robustness against population stratification, but the evaluation of the significance of test statistics based on asymptotic theory can be imprecise. In addition, power will depend...

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Hecker J, William Townes F, Kachroo P, et al. A unifying framework for rare variant association testing in family-based designs, including higher criticism approaches, SKATs, and burden tests. Bioinformatics. 2020;doi: 10.1093/bioinformatics/btaa1055.
Hecker, J., William Townes, F., Kachroo, P., Laurie, C., Lasky-Su, J., Ziniti, J., Cho, M. H., Weiss, S. T., Laird, N. M., & Lange, C. (2020). A unifying framework for rare variant association testing in family-based designs, including higher criticism approaches, SKATs, and burden tests. Bioinformatics (Oxford, England), . https://doi.org/10.1093/bioinformatics/btaa1055
Hecker, Julian, et al. "A unifying framework for rare variant association testing in family-based designs, including higher criticism approaches, SKATs, and burden tests." Bioinformatics (Oxford, England) vol. (2020). doi: https://doi.org/10.1093/bioinformatics/btaa1055
Hecker J, William Townes F, Kachroo P, Laurie C, Lasky-Su J, Ziniti J, Cho MH, Weiss ST, Laird NM, Lange C. A unifying framework for rare variant association testing in family-based designs, including higher criticism approaches, SKATs, and burden tests. Bioinformatics. 2020 Dec 26; doi: 10.1093/bioinformatics/btaa1055. Epub 2020 Dec 26. PMID: 33367522; PMCID: PMC8016468.
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A genome-wide association study meta-analysis of clinical fracture in 10,012 African American women.

Bone reports

Taylor KC, Evans DS, Edwards DRV, Edwards TL, Sofer T, Li G, Liu Y, Franceschini N, Jackson RD, Giri A, Donneyong M, Psaty B, Rotter JI, LaCroix AZ, Jordan JM, Robbins JA, Lewis B, Stefanick ML, Liu Y, Garcia M, Harris T, Cauley JA, North KE.
PMID: 28580392
Bone Rep. 2016 Aug 27;5:233-242. doi: 10.1016/j.bonr.2016.08.005. eCollection 2016 Dec.

BACKGROUND: Osteoporosis is a major public health problem associated with excess disability and mortality. It is estimated that 50-70% of the variation in osteoporotic fracture risk is attributable to genetic factors. The purpose of this hypothesis-generating study was to...

Cite
Taylor KC, Evans DS, Edwards DRV, et al. A genome-wide association study meta-analysis of clinical fracture in 10,012 African American women. Bone Rep. 2016;5:233-242doi: 10.1016/j.bonr.2016.08.005.
Taylor, K. C., Evans, D. S., Edwards, D. R. V., Edwards, T. L., Sofer, T., Li, G., Liu, Y., Franceschini, N., Jackson, R. D., Giri, A., Donneyong, M., Psaty, B., Rotter, J. I., LaCroix, A. Z., Jordan, J. M., Robbins, J. A., Lewis, B., Stefanick, M. L., Liu, Y., Garcia, M., Harris, T., Cauley, J. A., & North, K. E. (2016). A genome-wide association study meta-analysis of clinical fracture in 10,012 African American women. Bone reports, 5233-242. https://doi.org/10.1016/j.bonr.2016.08.005
Taylor, Kira C, et al. "A genome-wide association study meta-analysis of clinical fracture in 10,012 African American women." Bone reports vol. 5 (2016): 233-242. doi: https://doi.org/10.1016/j.bonr.2016.08.005
Taylor KC, Evans DS, Edwards DRV, Edwards TL, Sofer T, Li G, Liu Y, Franceschini N, Jackson RD, Giri A, Donneyong M, Psaty B, Rotter JI, LaCroix AZ, Jordan JM, Robbins JA, Lewis B, Stefanick ML, Liu Y, Garcia M, Harris T, Cauley JA, North KE. A genome-wide association study meta-analysis of clinical fracture in 10,012 African American women. Bone Rep. 2016 Aug 27;5:233-242. doi: 10.1016/j.bonr.2016.08.005. eCollection 2016 Dec. PMID: 28580392; PMCID: PMC5440953.
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Novel recessive locus for body mass index in childhood asthma.

Thorax

Lee S, Lasky-Su J, Won S, Laurie C, Celedón JC, Lange C, Weiss S, Hecker J.
PMID: 33888571
Thorax. 2021 Dec;76(12):1227-1230. doi: 10.1136/thoraxjnl-2020-215742. Epub 2021 Apr 22.

Most genome-wide association studies of obesity and body mass index (BMI) have so far assumed an additive mode of inheritance in their analysis, although association testing supports a recessive effect for some of the established loci, for example, rs1421085...

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Lee S, Lasky-Su J, Won S, et al. Novel recessive locus for body mass index in childhood asthma. Thorax. 2021;76(12):1227-1230doi: 10.1136/thoraxjnl-2020-215742.
Lee, S., Lasky-Su, J., Won, S., Laurie, C., Celedón, J. C., Lange, C., Weiss, S., & Hecker, J. (2021). Novel recessive locus for body mass index in childhood asthma. Thorax, 76(12), 1227-1230. https://doi.org/10.1136/thoraxjnl-2020-215742
Lee, Sanghun, et al. "Novel recessive locus for body mass index in childhood asthma." Thorax vol. 76,12 (2021): 1227-1230. doi: https://doi.org/10.1136/thoraxjnl-2020-215742
Lee S, Lasky-Su J, Won S, Laurie C, Celedón JC, Lange C, Weiss S, Hecker J. Novel recessive locus for body mass index in childhood asthma. Thorax. 2021 Dec;76(12):1227-1230. doi: 10.1136/thoraxjnl-2020-215742. Epub 2021 Apr 22. PMID: 33888571; PMCID: PMC8531156.
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Pangenomics enables genotyping of known structural variants in 5202 diverse genomes.

Science (New York, N.Y.)

Sirén J, Monlong J, Chang X, Novak AM, Eizenga JM, Markello C, Sibbesen JA, Hickey G, Chang PC, Carroll A, Gupta N, Gabriel S, Blackwell TW, Ratan A, Taylor KD, Rich SS, Rotter JI, Haussler D, Garrison E, Paten B.
PMID: 34914532
Science. 2021 Dec 17;374(6574):abg8871. doi: 10.1126/science.abg8871. Epub 2021 Dec 17.

[Figure: see text].

Cite
Sirén J, Monlong J, Chang X, et al. Pangenomics enables genotyping of known structural variants in 5202 diverse genomes. Science. 2021;374(6574):abg8871doi: 10.1126/science.abg8871.
Sirén, J., Monlong, J., Chang, X., Novak, A. M., Eizenga, J. M., Markello, C., Sibbesen, J. A., Hickey, G., Chang, P. C., Carroll, A., Gupta, N., Gabriel, S., Blackwell, T. W., Ratan, A., Taylor, K. D., Rich, S. S., Rotter, J. I., Haussler, D., Garrison, E., & Paten, B. (2021). Pangenomics enables genotyping of known structural variants in 5202 diverse genomes. Science (New York, N.Y.), 374(6574), abg8871. https://doi.org/10.1126/science.abg8871
Sirén, Jouni, et al. "Pangenomics enables genotyping of known structural variants in 5202 diverse genomes." Science (New York, N.Y.) vol. 374,6574 (2021): abg8871. doi: https://doi.org/10.1126/science.abg8871
Sirén J, Monlong J, Chang X, Novak AM, Eizenga JM, Markello C, Sibbesen JA, Hickey G, Chang PC, Carroll A, Gupta N, Gabriel S, Blackwell TW, Ratan A, Taylor KD, Rich SS, Rotter JI, Haussler D, Garrison E, Paten B. Pangenomics enables genotyping of known structural variants in 5202 diverse genomes. Science. 2021 Dec 17;374(6574):abg8871. doi: 10.1126/science.abg8871. Epub 2021 Dec 17. PMID: 34914532.
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Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection.

medRxiv : the preprint server for health sciences

Zhang C, Verma A, Feng Y, Melo MCR, McQuillan M, Hansen M, Lucas A, Park J, Ranciaro A, Thompson S, Rubel MA, Campbell MC, Beggs W, Hirbo J, Mpoloka SW, Mokone GG, Nyambo T, Meskel DW, Belay G, Fokunang C, Njamnshi AK, Omar SA, Williams SM, Rader D, Ritchie MD, de la Fuente Nunez C, Sirugo G, Tishkoff S.
PMID: 34230933
medRxiv. 2021 Aug 07; doi: 10.1101/2021.06.28.21259529.

We investigated global patterns of genetic variation and signatures of natural selection at host genes relevant to SARS-CoV-2 infection (

Cite
Zhang C, Verma A, Feng Y, et al. Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection. medRxiv. 2021;doi: 10.1101/2021.06.28.21259529.
Zhang, C., Verma, A., Feng, Y., Melo, M. C. R., McQuillan, M., Hansen, M., Lucas, A., Park, J., Ranciaro, A., Thompson, S., Rubel, M. A., Campbell, M. C., Beggs, W., Hirbo, J., Mpoloka, S. W., Mokone, G. G., Nyambo, T., Meskel, D. W., Belay, G., Fokunang, C., Njamnshi, A. K., Omar, S. A., Williams, S. M., Rader, D., Ritchie, M. D., de la Fuente Nunez, C., Sirugo, G., & Tishkoff, S. (2021). Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection. medRxiv : the preprint server for health sciences, . https://doi.org/10.1101/2021.06.28.21259529
Zhang, Chao, et al. "Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection." medRxiv : the preprint server for health sciences vol. (2021). doi: https://doi.org/10.1101/2021.06.28.21259529
Zhang C, Verma A, Feng Y, Melo MCR, McQuillan M, Hansen M, Lucas A, Park J, Ranciaro A, Thompson S, Rubel MA, Campbell MC, Beggs W, Hirbo J, Mpoloka SW, Mokone GG, Nyambo T, Meskel DW, Belay G, Fokunang C, Njamnshi AK, Omar SA, Williams SM, Rader D, Ritchie MD, de la Fuente Nunez C, Sirugo G, Tishkoff S. Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection. medRxiv. 2021 Aug 07; doi: 10.1101/2021.06.28.21259529. PMID: 34230933; PMCID: PMC8259910.
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Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry.

Mitochondrion

Liu C, Fetterman JL, Qian Y, Sun X, Blackwell TW, Pitsillides A, Cade BE, Wang H, Raffield LM, Lange LA, Anugu P, Abecasis G, Adrienne Cupples L, Redline S, Correa A, Vasan RS, Wilson JG, Ding J, Levy D.
PMID: 34303007
Mitochondrion. 2021 Sep;60:33-42. doi: 10.1016/j.mito.2021.07.004. Epub 2021 Jul 21.

We investigated the concordance of mitochondrial DNA heteroplasmic mutations (heteroplasmies) in 6745 maternal pairs of European (EA, n = 4718 pairs) and African (AA, n = 2027 pairs) Americans in whole blood. Mother-offspring pairs displayed the highest concordance rate,...

Cite
Liu C, Fetterman JL, Qian Y, et al. Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry. Mitochondrion. 2021;60:33-42doi: 10.1016/j.mito.2021.07.004.
Liu, C., Fetterman, J. L., Qian, Y., Sun, X., Blackwell, T. W., Pitsillides, A., Cade, B. E., Wang, H., Raffield, L. M., Lange, L. A., Anugu, P., Abecasis, G., Adrienne Cupples, L., Redline, S., Correa, A., Vasan, R. S., Wilson, J. G., Ding, J., Levy, D. (2021). Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry. Mitochondrion, 6033-42. https://doi.org/10.1016/j.mito.2021.07.004
Liu, Chunyu, et al. "Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry." Mitochondrion vol. 60 (2021): 33-42. doi: https://doi.org/10.1016/j.mito.2021.07.004
Liu C, Fetterman JL, Qian Y, Sun X, Blackwell TW, Pitsillides A, Cade BE, Wang H, Raffield LM, Lange LA, Anugu P, Abecasis G, Adrienne Cupples L, Redline S, Correa A, Vasan RS, Wilson JG, Ding J, Levy D. Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry. Mitochondrion. 2021 Sep;60:33-42. doi: 10.1016/j.mito.2021.07.004. Epub 2021 Jul 21. PMID: 34303007; PMCID: PMC8464516.
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Robust, flexible, and scalable tests for Hardy-Weinberg equilibrium across diverse ancestries.

Genetics

Kwong AM, Blackwell TW, LeFaive J, de Andrade M, Barnard J, Barnes KC, Blangero J, Boerwinkle E, Burchard EG, Cade BE, Chasman DI, Chen H, Conomos MP, Cupples LA, Ellinor PT, Eng C, Gao Y, Guo X, Irvin MR, Kelly TN, Kim W, Kooperberg C, Lubitz SA, Mak ACY, Manichaikul AW, Mathias RA, Montasser ME, Montgomery CG, Musani S, Palmer ND, Peloso GM, Qiao D, Reiner AP, Roden DM, Shoemaker MB, Smith JA, Smith NL, Su JL, Tiwari HK, Weeks DE, Weiss ST, Scott LJ, Smith AV, Abecasis GR, Boehnke M, Kang HM.
PMID: 33720349
Genetics. 2021 May 17;218(1). doi: 10.1093/genetics/iyab044.

Traditional Hardy-Weinberg equilibrium (HWE) tests (the χ2 test and the exact test) have long been used as a metric for evaluating genotype quality, as technical artifacts leading to incorrect genotype calls often can be identified as deviations from HWE....

Cite
Kwong AM, Blackwell TW, LeFaive J, et al. Robust, flexible, and scalable tests for Hardy-Weinberg equilibrium across diverse ancestries. Genetics. 2021;218(1)doi: 10.1093/genetics/iyab044.
Kwong, A. M., Blackwell, T. W., LeFaive, J., de Andrade, M., Barnard, J., Barnes, K. C., Blangero, J., Boerwinkle, E., Burchard, E. G., Cade, B. E., Chasman, D. I., Chen, H., Conomos, M. P., Cupples, L. A., Ellinor, P. T., Eng, C., Gao, Y., Guo, X., Irvin, M. R., Kelly, T. N., Kim, W., Kooperberg, C., Lubitz, S. A., Mak, A. C. Y., Manichaikul, A. W., Mathias, R. A., Montasser, M. E., Montgomery, C. G., Musani, S., Palmer, N. D., Peloso, G. M., Qiao, D., Reiner, A. P., Roden, D. M., Shoemaker, M. B., Smith, J. A., Smith, N. L., Su, J. L., Tiwari, H. K., Weeks, D. E., Weiss, S. T., Scott, L. J., Smith, A. V., Abecasis, G. R., Boehnke, M., & Kang, H. M. (2021). Robust, flexible, and scalable tests for Hardy-Weinberg equilibrium across diverse ancestries. Genetics, 218(1), . https://doi.org/10.1093/genetics/iyab044
Kwong, Alan M, et al. "Robust, flexible, and scalable tests for Hardy-Weinberg equilibrium across diverse ancestries." Genetics vol. 218,1 (2021). doi: https://doi.org/10.1093/genetics/iyab044
Kwong AM, Blackwell TW, LeFaive J, de Andrade M, Barnard J, Barnes KC, Blangero J, Boerwinkle E, Burchard EG, Cade BE, Chasman DI, Chen H, Conomos MP, Cupples LA, Ellinor PT, Eng C, Gao Y, Guo X, Irvin MR, Kelly TN, Kim W, Kooperberg C, Lubitz SA, Mak ACY, Manichaikul AW, Mathias RA, Montasser ME, Montgomery CG, Musani S, Palmer ND, Peloso GM, Qiao D, Reiner AP, Roden DM, Shoemaker MB, Smith JA, Smith NL, Su JL, Tiwari HK, Weeks DE, Weiss ST, Scott LJ, Smith AV, Abecasis GR, Boehnke M, Kang HM. Robust, flexible, and scalable tests for Hardy-Weinberg equilibrium across diverse ancestries. Genetics. 2021 May 17;218(1). doi: 10.1093/genetics/iyab044. PMID: 33720349; PMCID: PMC8128395.
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